Figure 5

Deletion rate on chromosome 19. The orange probability density represents the empirical distribution of 3513 zinc-finger motifs on chromosome 19. The deletion rate was estimated using population frequency data of polymorphic deletions larger than 50 bp in 45 individuals of European ancestry (CEU from 1000 genomes project). We used the Watterson estimator (continuous horizontal line) and a refinement of the Watterson estimator (dashed horizontal line) built from the frequency spectrum of deletions (see ‘Deletion rate as a function of the genomic location’ in Supplementary Information). We estimated the deletion rate on seven different regions of chromosome 19. These regions include six segments with a high density of zinc-finger motifs (peaks on 19p13.2, 19p13.11-19p.12, 19q13.11, 19q13.2, 19q13.33 and q13.41-q13.42) and the complementary region of chromosome 19. However, because of lack of sufficient data we could only estimate the rate on three segments: the complementary region, the peak on 19p13.11-19p.12 and the peak on q13.41-q13.42. The question marks in the plot denote the four segments where we could not estimate the deletion rate with confidence. The deletion rate is expressed in units of number of deletions (larger than 50 bp) per generation and per Giga-base (Gb)