Samples

1,249 individuals are included, drawn from the International HapMap Project and 1000 Genomes Project sample collection. A complete list is available in the Axiom Exome sample list.

Files and formats

Axiom Exome 319 CEL files are available for 90 Yoruba individuals. These are suitable for use in Axiom Analysis Suite, in conjunction with Axiom Exome analysis library files and annotation files.

Variant call format (VCF) genotype files are available for all 1,249 individuals, or for each population separately. The file format is described here (http://www.1000genomes.org/node/101 ).

PLINK format genotype files (binary .bed, .bim, and .fam) are available for all 1,249 individuals, or for each population separately.  These files are intended for use in conjunction with the Axiom annotation files; the internal SNP/indel identifiers are microarray SNP IDs that can be found in the annotation files.

Accessing Axiom Exome 319 and Axiom Exome Plus data sets

PopulationDescriptionExome 319 CELVCFPLINK
CEUCEPH CollectionN/Azip, 6.28 MBzip, 2.99 MB
CHBHan Chinese in Beijing, ChinaN/Azip, 4.93 MBzip, 2.65 MB
CHSHan Chinese SouthN/Azip, 6.40 MBzip, 3.01 MB
CLMColombian in Medellín, ColombiaN/Azip, 6.00 MBzip, 2.94 MB
FINFinnish in FinlandN/Azip, 6.52 MBzip, 3.09 MB
GBRBritish From England and ScotlandN/Azip, 6.50 MBzip, 3.09 MB
IBSIberian Populations in SpainN/Azip, 6.57 MBzip, 3.08 MB
JPTJapanese in Tokyo, JapanN/Azip, 6.91 MBzip, 3.10 MB
LWKLuhya in Webuye, KenyaN/Azip, 7.59 MBzip, 3.48 MB
MXLMexican Ancestry in Los Angeles CA USAN/Azip, 5.95 MBzip, 2.92 MB
PELPeruvian in Lima PeruN/Azip, 5.77 MBzip, 2.82 MB
PURPuerto Rican in Puerto RicoN/Azip, 6.06 MBzip, 2.98 MB
TSIToscani in ItaliaN/Azip, 6.84 MBzip, 3.16 MB
YRIYoruba in Ibadan, Nigeriazip, 744 MBzip, 6.53 MBzip, 3.14 MB
ALL N/Azip, 31.2 MBzip, 12.5 MB

Download sample list (txt, 16 KB).

Access format specifications for variant call format (VCF) , including conventions and extensions adopted by the 1000 Genomes Project. can be accessed.