ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Population Information

NameALFRED UIDPrimary LanguageLanguage Family
European AmericansPO000329O

Synonyms:
Geographic Location1:  70N, 23W; 35N, 55E  

Sites typed for this population: View List
Population Samples: See Sample Information
External Resources: 
References: See references
Population Description: Being curated
References:


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: U.S. Caucasian

Sample UID: SA000652N

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 96

Relation to Other Samples: Superset of sample SA000493Q

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian

Sample UID: SA000654P

Sample Description:This sample was collected from normal Caucasians living in Houston, Texas. They are predominantly of northern and western European heritage.

Number of Chromosomes: 100

Relation to Other Samples:

References:
- Milewicz DM, Byers PH, Reveille J, Hughes AL, Duvic M. "A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific". J Mol Evol 42:117-23. (1996) Online citation.


Sample Information:

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Sample Name: Caucasians, U.S.

Sample UID: SA000660M

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 142

Relation to Other Samples: Superset of sample SA000493Q

References:
- Arcot SS, Adamson AW, Risch GW, LaFleur J, Robichaux MB, Lamerdin JE, Carrano AV, Batzer MA "High-resolution cartography of recently integrated human chromosome 19-specific Alu fossils". J Mol Biol 281:843-56. (1998) Online citation.

- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: European American

Sample UID: SA000685T

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 142

Relation to Other Samples: Superset of sample SA000543M

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.

- Romualdi C, Balding D, Nasidze IS, Risch G, Robichaux M, Sherry ST, Stoneking M, Batzer MA, Barbujani G. "Patterns of human diversity, within and among continents, inferred from Biallilic DNA polymorphisms". Genome Res 12:602-612. (2002) Online citation.

- Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA. "Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa ". Genome Res 7:1061-71. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: CEPH, related

Sample UID: SA000139N

Sample Description:Members of nine CEPH families were analyzed. In all families, four grandparents, two parents, and four children were examined; since two of these families share a grandparent, 89 individuals were genotyped, and the number of segregating chromosomes is 70.

Number of Chromosomes: 70

Relation to Other Samples:

References:
- Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. "Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium". Am. J. Hum. Genet. 67:1437-1451. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: European-Americans

Sample UID: SA000493Q

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 90

Relation to Other Samples:

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.


Sample Information:

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Sample Name: White American

Sample UID: SA000799Z

Sample Description:This sample consists of sequencial, unrelated male and female specimens received by the clinical laboratories of the North Carolina Memorial Hospital, USA.

Number of Chromosomes: 150

Relation to Other Samples:

References:
- Lubahn DB, Lord ST, Bosco J, Kirshtein J, Jeffries OJ, Parker N, Levtzow C, Silverman LM, Graham JB. "Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups". Am J Hum Genet. 40:527-36. (1987) Online citation.


Sample Information:

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Sample Name: Anglo-American

Sample UID: SA000804M

Sample Description:This sample consists of unrelated Anglo-American medical students from the University of North Carolina, USA. All the participants ancestors can be traced to the British Isles.

Number of Chromosomes: 91

Relation to Other Samples:

References:
- Graham JB, Kunkel GR, Egilmez NK, Wallmark A, Fowlkes DM, Lord ST. "The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups ". Am J Hum Genet 49:537-44. (1991) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: European-Americans

Sample UID: SA000543M

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 114

Relation to Other Samples: Superset of sample SA000493Q

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian American

Sample UID: SA000550K

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 144

Relation to Other Samples: Superset of sample SA000493Q

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: European American

Sample UID: SA000599X

Sample Description:This sample consisted of United States indidiuals with predominantly northern European ancestry. The samples were collected in Michigan, which is located in the mid-west region of the United States.

Number of Chromosomes: 144

Relation to Other Samples: Superset of sample SA000543M

References:
- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.

- Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA. "Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa ". Genome Res 7:1061-71. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Virginia

Sample UID: SA001239P

Sample Description:This sample consists of U.S. Caucasians from Virginia, USA. Samples provided by the National Institute of Standards and Technologym and Virginia Division of Forensic Science.

Number of Chromosomes: 394

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: New York

Sample UID: SA001240H

Sample Description:This sample consists of U.S. Caucasians from New York, USA. Samples provided by the Armed Forces Institute of Pathology, New York City Office of the Chief Examiner, and Suffolk County Crime Laboratory.

Number of Chromosomes: 284

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Minnesota

Sample UID: SA001242J

Sample Description:This sample consists of U.S. Caucasians from Minnesota, USA. Samples provided by the Minnesota Bureau of Criminal Apprehension.

Number of Chromosomes: 300

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

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Sample Name: Caucasian

Sample UID: SA001245M

Sample Description:This sample consists of unrelated North American Caucasian individuals.

Number of Chromosomes: 15674

Relation to Other Samples:

References:
- Einum DD, Scarpetta MA. "Genetic analysis of large data sets of North American Black, Caucasian, and Hispanic populations at 13 CODIS STR loci". J Forensic Sci. 49:1381-5. (2004) Online citation.


Sample Information:

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Sample Name: U.S. Caucasians

Sample UID: SA001166O

Sample Description:This sample consists of U.S. Caucasians provided by Dr. A. Eisenberg, University of North Texas Health Science Center, Fort Worth, Texas (USA).

Number of Chromosomes: 406

Relation to Other Samples:

References:
- Budowle B, Moretti TR, Baumstark AL, Defenbaugh DA, Keys KM. "Population data on the thirteen CODIS core short tandem repeat loci in African Americans, U.S. Caucasians, Hispanics, Bahamians, Jamaicans, and Trinidadians". J Forensic Sci. 44:1277-1286. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Florida

Sample UID: SA001238O

Sample Description:This sample consists of U.S. Caucasians from Florida, USA. Samples provided by the Florida Department of Law Enforcement , Metro-Dade Police Department/Miami Children's Research Institute, and Palm Beach County Sheriff's Office.

Number of Chromosomes: 492

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Michigan

Sample UID: SA001241I

Sample Description:This sample consists of U.S. Caucasians from Michigan, USA. Samples provided by the Michigan State Police, and Detroit Police Department.

Number of Chromosomes: 320

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: California

Sample UID: SA001236M

Sample Description:This sample consists of U.S. Caucasians from California, USA. Samples were provided by the California Department of Justice, Orange County Sheriff's-Coroner Laboratory.

Number of Chromosomes: 300

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Alabama

Sample UID: SA001237N

Sample Description:This sample consists of U.S. Caucasians from Alabama, USA. Samples were provided by the Alabama Department of Forensic Sciences.

Number of Chromosomes: 300

Relation to Other Samples:

References:
- Budowle B, Shea B, Niezgoda S, Chakraborty R. "CODIS STR loci data from 41 sample populations". J Forensic Sci. 46:453-489. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: U.S. Caucasian

Sample UID: SA001345N

Sample Description:This sample consists of unrelated U.S. Caucasian individuals from throughout the United States, with no geographical preference, provided by the Laboratory Corporation of America.

Number of Chromosomes: 400

Relation to Other Samples:

References:
- Holt CL, Stauffer C, Wallin JM, Lazaruk KD, Nguyen T, Budowle B, Walsh PS. "Practical applications of genotypic surveys for forensic STR testing". Forensic Sci Int. 112:91-109. (2000) Online citation.


Sample Information:

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Sample Name: Utah (CEU)

Sample UID: SA002029N

Sample Description:This sample consists of individuals from a US Utah population with Northern and Western European ancestry collected by the Centre d'Etude du Polymorphisme Humain (CEPH).The CEPH samples are available from the NIGMS repository at Coriell. This sample is also typed as part of the 1000 Genomes project.

Number of Chromosomes: 238

Relation to Other Samples:

References:
- Nakajima T, Wooding S, Sakagami T, Emi M, Tokunaga K, Tamiya G, Ishigami T, Umemura S, Munkhbat B, Jin F, Guan-Jun J, Hayasaka I, Ishida T, Saitou N, Pavelka K, Lalouel JM, Jorde LB, Inoue I. "Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world". Am J Hum Genet 74:898-916. (2004) Online citation.

- The International HapMap Consortium. "The International HapMap Project.". Nature. 426:789-96. (2003) Online citation.


Sample Information:

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Sample Name: European American

Sample UID: SA001674S

Sample Description:This sample consists of European Americans (subset from NA17200-NA17285) from the Coriell Institute.

Number of Chromosomes: 82

Relation to Other Samples:

References:
- Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW. "Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation". Hum Genomics. 2:81-89. (2005) Online citation.


Sample Information:

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Sample Name: European American

Sample UID: SA001585T

Sample Description:This sample consists of unrelated European Americans from Maryland, USA.

Number of Chromosomes: 270

Relation to Other Samples:

References:
- Beaty TH, Fallin MD, Hetmanski JB, McIntosh I, Chong SS, Ingersoll R, Sheng X, Chakraborty R, Scott AF. "Haplotype diversity in 11 candidate genes across four populations". Genetics 171:259-67. (2005) Online citation.


Sample Information:

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Sample Name: European American - CEPH

Sample UID: SA001642N

Sample Description:This sample consists of European Americans from the HGDP-CEPH Human Genome Diversity Cell Line Panel, excluding the French and Venezualans.

Number of Chromosomes: 164

Relation to Other Samples:

References:
- Yoshiura KI et al. "A SNP in the ABCC11 gene is the determinant of human earwax type.". Nat Genet. 38:324-330. (2006) Online citation.


Sample Information:

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Sample Name: Caucasian

Sample UID: SA001728S

Sample Description:This sample consists of European Americans obtained from the Coriell Cell Repository, panel ID TSC_42_CAU.

Number of Chromosomes: 84

Relation to Other Samples:

References:
- Nadkarni NA, Weale ME, von Schantz M, Thomas MG. "Evolution of a length polymorphism in the human PER3 gene, a component of the circadian system". J Biol Rhythms. 20:490-499. (2005) Online citation.


Sample Information:

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Sample Name: Caucasian

Sample UID: SA001990T

Sample Description:This sample consists of healthy Caucasians recruited from the State University of New York Health Science Center (Brooklyn, NY) and the Westchester Medical Center (Valhalla, NY).

Number of Chromosomes: 270

Relation to Other Samples:

References:
- Jain S, Tang X, Narayanan CS, Agarwal Y, Peterson SM, Brown CD, Ott J, Kumar A. "Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans". J Biol Chem. 277:36889-36896. (2002) Online citation.


Sample Information:

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Sample Name: Caucasian (University controls)

Sample UID: SA001993W

Sample Description:This sample consists of healthy pregnant women selected at the University Utah Hospital (Utah, USA).

Number of Chromosomes: 186

Relation to Other Samples:

References:
- Ward K, Hata A, Jeunemaitre X, Helin C, Nelson L, Namikawa C, Farrington PF, Ogasawara M, Suzumori K, Tomoda S,et al. "A molecular variant of angiotensinogen associated with preeclampsia". Nat Genet. 4:59-61. (1993) Online citation.


Sample Information:

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Sample Name: USA, Atlanta, Whites

Sample UID: SA002709S

Sample Description:This sample consists of specimens chosen from newborns whose mothers resided in metropolitan Atlanta. Specimens from the blood spots left over from newborn screening were used. This study was conducted under the auspices of the International Clearinghouse for Birth Defect Monitoring Systems (ICBDMS) and was coordinated through its head office, the International Center on Birth Defects. Local review boards approved the study.In all cases personal identifiers were removed before data were provided to ICBD for epidemiological analysis.

Number of Chromosomes: 600

Relation to Other Samples:

References:
- Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. "Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide". J Med Genet. 40:619-25.. (2003) Online citation.


Sample Information:

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Sample Name: European Ancestry

Sample UID: SA003774V

Sample Description:This sample consists of autochthonous, unrelated and healthy donors of European ancestry from United States who gave their informed consent.

Number of Chromosomes: 580

Relation to Other Samples:

References:
- Predazzi IM, Martínez-Labarga C, Vecchione L, Mango R, Ciccacci C, Amati F, Ottoni C, Crawford MH, Rickards O, Romeo F, Novelli G. "Population differences in allele frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk events". Ann Hum Biol. 37:136-48. (2010) Online citation.


Sample Information:

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Sample Name: European Americans

Sample UID: SA003470O

Sample Description:This sample consists of European Americans from New York city and were collected as part of the New York Cancer Project. The subjects were all healthy and not first degree relatives of each other based on self-reporting.

Number of Chromosomes: 256

Relation to Other Samples:

References:
- Kosoy R, Nassir R, Tian C, White PA, Butler LM, Silva G, Kittles R, Alarcon-Riquelme ME, Gregersen PK, Belmont JW, De La Vega FM, Seldin MF. "Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America". Hum Mutat 30:69-78. (2009) Online citation.


Sample Information:

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Sample Name: European Americans

Sample UID: SA003920O

Sample Description:This sample consists of European-Americans from North Carolina.

Number of Chromosomes: 252

Relation to Other Samples:

References:
- Stephens EA, Taylor JA, Kaplan N, Yang CH, Hsieh LL, Lucier GW, Bell DA. "Ethnic variation in the CYP2E1 gene: polymorphism analysis of 695 African-Americans, European-Americans and Taiwanese". Pharmacogenetics. 4:185-92. (1994) Online citation.


Sample Information:

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Sample Name: European Americans (DEU)

Sample UID: SA003522M

Sample Description:This sample consists of European Americans from New York city. The subjects were all healthy and unrelated.

Number of Chromosomes: 48

Relation to Other Samples:

References:
- Silva MC, Zuccherato LW, Soares-Souza GB, Vieira ZM, Cabrera L, Herrera P, Balqui J, Romero C, Jahuira H, Gilman RH, Martins ML, Tarazona-Santos E. "Development of two multiplex mini-sequencing panels of ancestry informative SNPs for studies in Latin Americans: an application to populations of the State of Minas Gerais (Brazil)". Genet Mol Res. 9:2069-85. (2010) Online citation.

- Tian C, Hinds DA, Shigeta R, Kittles R, Ballinger DG, Seldin MF "A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping". Am J Hum Genet. 79:640-9. (2006) Online citation.


Sample Information:

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Sample Name: European Americans

Sample UID: SA003983X

Sample Description:This sample consists of Caucasians.

Number of Chromosomes: N.A

Relation to Other Samples:

References:
- Publication pending


Sample Information:

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Sample Name: Caucasians

Sample UID: SA003564S

Sample Description:This sample consists of Caucasian DNA samples from the Coriell Institute for Medical Research. The DNA samples came from anonymous, unrelated, US residents who gave informed consent to be part of DNA Polymorphism Discovery Resource and have ancestors from major geographic regions of the world.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Tanus-Santos JE, Desai M, Flockhart DA. "Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants". Pharmacogenetics 11:719-25. (2001) Online citation.


Sample Information:

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Sample Name: EDGE(Estrogen,diet, Genetics and Endometrial Cancer)

Sample UID: SA003620L

Sample Description:This sample is part of a case-control study and includes the controls from New Jersey, USA. This study protocol was approved by IRB at the Memorial Sloan-Kettering Cancer Center, New Jersey.

Number of Chromosomes: 466

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: FHCRC(Fret Hutchinson Cancer Research Center)

Sample UID: SA003621M

Sample Description:This sample is part of the case-control study and includes the randonmly selected controls using random-digit dialing from Washington D.C area. For more details about this sample go to http://www.fhcrc.org/.

Number of Chromosomes: 1458

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: HAW(Hawaii Endometrial Cancer Study)

Sample UID: SA003622N

Sample Description:This sample is part of a case-control study and includes the randomly selected participants in the annual survey of representative households in Hawaii. The study protocol was approved by the IRB of University of Hawaii.

Number of Chromosomes: 290

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

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Sample Name: MEC(Multietnic Cohort Study)

Sample UID: SA003623O

Sample Description:This sample is part of a case-control study and includes the control participants who were randomly selected to serve as controls. The IRB of University of California and Hawaii approved this study. For more information on this sample go to http://www.crch.org/multiethniccohort/.

Number of Chromosomes: 658

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians

Sample UID: SA003913Q

Sample Description:This sample consists of Caucasian controls who were part of a study conducted at temple University Hospital, Philadelphia, Memorial Sloan-Kettering Cancer Center, New york and Ear Infirmary, New York.

Number of Chromosomes: 452

Relation to Other Samples:

References:
- Liu S, Park JY, Schantz SP, Stern JC, Lazarus P. "Elucidation of CYP2E1 5' regulatory RsaI/Pstl allelic variants and their role in risk for oral cancer". Oral Oncol 37:437-45. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians

Sample UID: SA003923R

Sample Description:This sample consists of American Caucasians enrolled in a Baltimore Case control study and also the Baltimore autopsy donor program.

Number of Chromosomes: 214

Relation to Other Samples:

References:
- Kato S, Shields PG, Caporaso NE, Hoover RN, Trump BF, Sugimura H, Weston A, Harris CC. "Cytochrome P450IIE1 genetic polymorphisms, racial variation, and lung cancer risk". Cancer Res. 52:6712-5. (1992) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian

Sample UID: SA003930P

Sample Description:This sample consists of Caucasians of Western European origin.

Number of Chromosomes: 178

Relation to Other Samples:

References:
- Parsian A, Cloninger CR, Zhang ZH. "Association studies of polymorphisms of CYP2E1 gene in alcoholics with cirrhosis, antisocial personality, and normal controls". Alcohol Clin Exp Res. 22:888-91. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: White American

Sample UID: SA002082M

Sample Description:This sample consists of White American women.

Number of Chromosomes: 446

Relation to Other Samples:

References:
- Stoler JM, Ryan LM, Holmes LB "Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome". J Pediatr. 141:780-5. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian

Sample UID: SA003145N

Sample Description:This sample consists of U.S Caucasians who were part of the CARDIA study. This study is a National Heart,Lung and Blood Institute funded longitudinal epidemiological study from 4 clinical centers (Birmingham,AL; Chicago,IL;Minneapolis,MN; and Oakland,CA).

Number of Chromosomes: 1688

Relation to Other Samples:

References:
- Tsai MY, Loria CM, Cao J, Kim Y, Siscovick D, Schreiner PJ, Hanson NQ "Clinical utility of genotyping the 677C>T variant of methylenetetrahydrofolate reductase in humans is decreased in the post-folic acid fortification era". J Nutr. 139:33-7. (2009) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians

Sample UID: SA003655T

Sample Description:This sample consists of poopulation of Caucasians undergoing colonoscopy screening at the University Hospitals Health system(UHHS) in Cleveland,Ohio.

Number of Chromosomes: 1518

Relation to Other Samples:

References:
- Nock NL, Plummer SJ, Thompson CL, Casey G, Li L. "FTO Polymorphisms are Associated with Adult Body Mass Index (BMI) and Colorectal Adenomas in African-Americans". Carcinogenesis. (Epub ahead of print) (2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Non-Hispanic white

Sample UID: SA003659X

Sample Description:The study population consists of non-hispanic white individuals participating in a prospective urban-suburban school based study of carbohydrate metabolism (Princeton School District study, Cincannati, Ohio).

Number of Chromosomes: 1122

Relation to Other Samples:

References:
- Bollepalli S, Dolan LM, Deka R, Martin LJ. "Association of FTO gene variants with adiposity in African-American adolescents". Obesity (Silver Spring). 18:1959-63. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians (Killeen,TX)

Sample UID: SA002669X

Sample Description:This sample consists of Caucasians from Killeen,TX. Blood samples were collected from unrelated individuals at the Interstate Blood Bank Incorporated for that ethnic group in Killeen,TX.

Number of Chromosomes: 302

Relation to Other Samples:

References:
- Doucette-Stamm LA, Blakely DJ, Tian J, Mockus S, Mao JI. "Population genetic study of the human dopamine transporter gene (DAT1)". Genet Epidemiol. 12:303-8.. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians (Memphis, TN)

Sample UID: SA002670P

Sample Description:This sample consists of Caucasians from Memphis,TN. Blood samples were collected from unrelated individuals at the Interstate Blood Bank Incorporated for that ethnic group in Memphis,TN.

Number of Chromosomes: 324

Relation to Other Samples:

References:
- Doucette-Stamm LA, Blakely DJ, Tian J, Mockus S, Mao JI. "Population genetic study of the human dopamine transporter gene (DAT1)". Genet Epidemiol. 12:303-8.. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians (Miami, FL)

Sample UID: SA002671Q

Sample Description:This sample consists of Caucasians from Miami, FL . Blood samples were collected from unrelated individuals at the Interstate Blood Bank Incorporated for that ethnic group in Miami,FL.

Number of Chromosomes: 324

Relation to Other Samples:

References:
- Doucette-Stamm LA, Blakely DJ, Tian J, Mockus S, Mao JI. "Population genetic study of the human dopamine transporter gene (DAT1)". Genet Epidemiol. 12:303-8.. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian (LDS hospital controls)

Sample UID: SA001994X

Sample Description:This sample consists of healthy women selected from a low-risk obstetric service in Utah, USA.

Number of Chromosomes: 956

Relation to Other Samples:

References:
- Ward K, Hata A, Jeunemaitre X, Helin C, Nelson L, Namikawa C, Farrington PF, Ogasawara M, Suzumori K, Tomoda S,et al. "A molecular variant of angiotensinogen associated with preeclampsia". Nat Genet. 4:59-61. (1993) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians

Sample UID: SA003456S

Sample Description:This sample consists of anonymous blood samples with self identified ethnicities (U.S Caucasians) that were purchased from Interstate Blood Bank, Inc(Memphis, TN) and Millennium Biotech, Inc (Ft.lauderdale, FL).

Number of Chromosomes: 148

Relation to Other Samples:

References:
- Vallone PM, Decker AE, Butler JM. "Allele frequencies for 70 autosomal SNP loci with U.S. Caucasian, African-American, and Hispanic samples". Forensic Sci Int 149:279-86. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Europeans

Sample UID: SA003518R

Sample Description:This sample is part of the SNP500Cancer initiative study. The SNP500Cancer panel is a set of reference samples from four ethnically diverse groups. The anonymized samples are obtained from the Coriell Cell Repositories (Coriell Institute for Medical research). This sample represent 31 Caucasians.

Number of Chromosomes: 62

Relation to Other Samples:

References:
- Coriell Biorepository collection Online citation.

- Packer BR, Yeager M, Staats B, Welch R, Crenshaw A, Kiley M, Eckert A, Beerman M, Miller E, Bergen A, Rothman N, Strausberg R, Chanock SJ. "SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes". Nucleic Acids Res. 32:D528-32. (2004) Online citation.

- Silva MC, Zuccherato LW, Soares-Souza GB, Vieira ZM, Cabrera L, Herrera P, Balqui J, Romero C, Jahuira H, Gilman RH, Martins ML, Tarazona-Santos E. "Development of two multiplex mini-sequencing panels of ancestry informative SNPs for studies in Latin Americans: an application to populations of the State of Minas Gerais (Brazil)". Genet Mol Res. 9:2069-85. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: NHS(Nurses Health study)

Sample UID: SA003624P

Sample Description:This sample is the control group from a case-control study conducted by USA for the Nurses Health study (NHS) from 11 US states.. The controls were randomly selected from the cohort matched by age and menopausal status. For more information on this sample go to http://www.channing.harvard.edu/nhs/.

Number of Chromosomes: 2310

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: WISE(Women's Insights and Shared Experiences)

Sample UID: SA003627S

Sample Description:This sample consists of controls from a case-control study conducted in Pennsylvania, USA. Controls were ascertained by random digit dialing from the same nine counties from the Philadelphia metropolitan area between 1999-2002. The cases and frequency were matched by age and race.

Number of Chromosomes: 1004

Relation to Other Samples:

References:
- Lurie G, Gaudet MM, Spurdle AB, Carney ME, Wilkens LR, Yang HP, Weiss NS, Webb PM, Thompson PJ, Terada K, Setiawan VW, Rebbeck TR, Prescott J, Orlow I, O'Mara T, Olson SH, Narod SA, Matsuno RK, Lissowska J, Liang X, Levine DA, Le Marchand L, Kolonel LN, Henderson BE, Garcia-Closas M, Doherty JA, De Vivo I, Chen C, Brinton LA, Akbari MR; Australian National Endometrial Cancer Study Group; Epidemiology of Endometrial Cancer Consortium (E2C2), Goodman MT. "The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women". PLoS One. 6:(2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: US Caucasians (CAU)

Sample UID: SA004629V

Sample Description:This sample consists of US Caucasian individuals. The samples used for this study were collected in accordance with the policies and procedures approved by the Institutional Review Board for the University of North Texas Health Science Center in Fort Worth, Texas.

Number of Chromosomes: 416

Relation to Other Samples:

References:
- Churchill JD, Novroski NMM, King JL, Seah LH, Budowle B "Population and performance analyses of four major populations with Illumina's FGx Forensic Genomics System". Forensic Sci Int Genet. 30:81-92. (2017) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Europeans

Sample UID: SA004133L

Sample Description:This sample consists of control subjects recruited from the Greater Philadelphia area at the Children's Hospital of Philadelphia. All subjects were biologically unrelated. All the subjects were of European ancestry.

Number of Chromosomes: 11902

Relation to Other Samples:

References:
- Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H. "A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24". J Pediatr 155:909-13. (2009) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasian

Sample UID: SA004069T

Sample Description:This sample consists of unrelated Caucasians residing in Texas. The samples were anonymized and collected in accordance with methods approved by the Institutional Review Board for the University of North Texas Science center.

Number of Chromosomes: 150

Relation to Other Samples:

References:
- Larue BL, Ge J, King JL, Budowle B. "A validation study of the Qiagen Investigator DIPplex® kit; an INDEL-based assay for human identification". Int J Legal Med. (epub,ahead of print) (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: European Americans

Sample UID: SA004170M

Sample Description:This sample consists of DNA samples of European Americans obtained from the Coriell Cell Repository,

Number of Chromosomes: 48

Relation to Other Samples:

References:
- Tomoyasu Y, Yamaguchi T, Tajima A, Nakajima T, Inoue I, Maki K. "Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population". Am J Orthod Dentofacial Orthop. 136:536-41. (2009) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Caucasians

Sample UID: SA004071M

Sample Description:This sample consists of US Caucasians. This sample is part of the NIST sample collection

Number of Chromosomes: 524

Relation to Other Samples:

References:
- Fondevila M, Pereira R, Gusmao L, Phillips C, Lareu MV, Carracedo A, Butler JM, Vallone PM "Forensic performance of two insertion-deletion marker assays ". Int J Legal Med. 126:725-37. (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Utah residents with Northern and Western European ancestry (CEU)

Sample UID: SA004250L

Sample Description:This hapmap sample is also part of the 1000 genomes samples collections.

Number of Chromosomes: 198

Relation to Other Samples: Subset of SA002029N

References:
- 1000 genomes phase1 samples data Online citation.

- 1000genomes project samples page Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: CEU_Hapmap

Sample UID: SA004357T

Sample Description:

Number of Chromosomes: 120

Relation to Other Samples: Subset of SA002029N

References:
- Xing J, Watkins WS, Shlien A, Walker E, Huff CD, Witherspoon DJ, Zhang Y, Simonson TS, Weiss RB, Schiffman JD, Malkin D, Woodward SR, Jorde LB. "Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping". Genomics 96:199-210. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: EuroAmerican

Sample UID: SA004721O

Sample Description:This sample consists of Americans of European ancestry. Written informed consent was obtained from all individuals. This sample is part of Caixia Li's group in Institute of Forensic Science, Beijing, China. It was provided by the Kenneth K. Kidd's laboratory to Caixia lab.

Number of Chromosomes: 180

Relation to Other Samples:

References:
- Jiang L, Wei YL, Zhao L, Li N, Liu T, Liu HB, Ren LJ, Li JL, Hao HF, Li Q, Li CX. "Global analysis of population stratification using a smart panel of 27 continental ancestry-informative SNPs". Forensic Sci Int Genet. 35:e10-e12. (2018) Online citation.


1Geographic Coordinates represent two opposite corners of a rectangle encompassing the area where the population lives.This data is preliminary and changing.

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© 2019 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan