Fig. 6

Chromosome-wide heat maps of potential inversion alignments found in the 1000 Genomes phase 3 data set, with start position plotted against observed template length. a Alignments found in chromosome 15, from the entire set of 2535 individuals. The fraction of individuals having an alignment in each bin is visualized on a logarithmic color scale. The encircled area corresponds to a region on 15q13 known for genetic instability, including duplications and inversions associated with highly identical blocks of flanking segmental duplications [18, 19, 21]. b Difference in population frequencies found in European (EUR) and non-European individuals on chromosome 17. Color intensity indicates the difference between within-population frequencies, with positive values indicating higher prevalence in the European group. Encircled is a signal that is consistent with an inversion on 17q21.31 found to be under selection in Europeans by Stefansson et al. [23]. c Difference in population frequencies found in the African (AFR) and South Asian (SAS) superpopulation groups on chromosome 5. Color intensity indicates the difference between within-population frequencies, with positive values indicating higher prevalence in the South Asian group