1000 Genomes Project

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. The genomes of 2,504 individuals from 26 populations were reconstructed using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. A broad spectrum of genetic variation was characterised, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries.