The 1000 Genomes Project aims to provide a comprehensive characterization of human genome sequence variation, which is essential for understanding the relationship between genotype and phenotype. The pilot phase of the project involved three main components: low-coverage whole-genome sequencing of 179 individuals from four populations, high-coverage sequencing of two mother-father-child trios, and exon-targeted sequencing of 697 individuals from seven populations. The results catalogued approximately 15 million single nucleotide polymorphisms (SNPs), 1 million short insertions and deletions (indels), and 20,000 structural variants, most of which were previously undescribed. Over 95% of common variants found in any individual are present in this data set. On average, each person carries about 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants implicated in inherited disorders. The project also estimated the rate of de novo germline base substitution mutations to be approximately 10^-8 per base pair per generation and identified a marked reduction of genetic variation in the neighborhood of genes due to selection at linked sites. These findings will support the next phase of human genetic research.The 1000 Genomes Project aims to provide a comprehensive characterization of human genome sequence variation, which is essential for understanding the relationship between genotype and phenotype. The pilot phase of the project involved three main components: low-coverage whole-genome sequencing of 179 individuals from four populations, high-coverage sequencing of two mother-father-child trios, and exon-targeted sequencing of 697 individuals from seven populations. The results catalogued approximately 15 million single nucleotide polymorphisms (SNPs), 1 million short insertions and deletions (indels), and 20,000 structural variants, most of which were previously undescribed. Over 95% of common variants found in any individual are present in this data set. On average, each person carries about 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants implicated in inherited disorders. The project also estimated the rate of de novo germline base substitution mutations to be approximately 10^-8 per base pair per generation and identified a marked reduction of genetic variation in the neighborhood of genes due to selection at linked sites. These findings will support the next phase of human genetic research.