An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association…

• HH
  Howard Hughes Medical Institute
• YU
  Yale University
• WT
  Wellcome Trust

  Awards: RR19895, WT104947/Z/14/Z
• EB
  European Bioinformatics Institute
• EM
  European Molecular Biology Laboratory
• DF
  Deutsche Forschungsgemeinschaft
• EW
  Ewha Womans University
• KU
  Kunming University of Science and Technology
• NI
  National Institutes of Health

  Awards: U41HG007497, RR19895, RR19895 and RR029676-01, RR029676-01