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 file.
Files and Formats
Axiom® Exome319 CEL files are available for 90 Yoruba individuals. These are suitable for use in Genotyping Console, in conjunction with Axiom Exome analysis library files and annotation files.
VCF (Variant Call Format) 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. The file format is described here (http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml). These files are intended for use in conjunction with the Axiom annotation files; the internal SNP/indel identifiers are Affymetrix SNP IDs that can be found in the annotation files.
Accessing Axiom® Exome 319 and Axiom® Exome Plus Data Sets
| Population | Description | Exome319 CEL | VCF | PLINK |
|---|---|---|---|---|
| CEU | CEPH Collection | N/A | zip, 6.28 MB | zip, 2.99 MB |
| CHB | Han Chinese in Beijing, China | N/A | zip, 4.93 MB | zip, 2.65 MB |
| CHS | Han Chinese South | N/A | zip, 6.40 MB | zip, 3.01 MB |
| CLM | Colombian in Medellín, Colombia | N/A | zip, 6.00 MB | zip, 2.94 MB |
| FIN | Finnish in Finland | N/A | zip, 6.52 MB | zip, 3.09 MB |
| GBR | British From England and Scotland | N/A | zip, 6.50 MB | zip, 3.09 MB |
| IBS | Iberian Populations in Spain | N/A | zip, 6.57 MB | zip, 3.08 MB |
| JPT | Japanese in Tokyo, Japan | N/A | zip, 6.91 MB | zip, 3.10 MB |
| LWK | Luhya in Webuye, Kenya | N/A | zip, 7.59 MB | zip, 3.48 MB |
| MXL | Mexican Ancestry in Los Angeles CA USA | N/A | zip, 5.95 MB | zip, 2.92 MB |
| PEL | Peruvian in Lima Peru | N/A | zip, 5.77 MB | zip, 2.82 MB |
| PUR | Puerto Rican in Puerto Rico | N/A | zip, 6.06 MB | zip, 2.98 MB |
| TSI | Toscani in Italia | N/A | zip, 6.84 MB | zip, 3.16 MB |
| YRI | Yoruba in Ibadan, Nigeria | zip, 744 MB | zip, 6.53 MB | zip, 3.14 MB |
| ALL | N/A | zip, 31.2 MB | zip, 12.5 MB |
Download Sample List (txt, 16 KB)
- For Library files for analyzing the CEL files, click here
- For Annotation files, click here or access them via NetAffx™ Analysis Center
- Format specifications for Variant Call Format (VCF), including conventions and extensions adopted by the 1000 Genomes Project can be accessed here.
- A description of PLINK data formats can be found here.
