Figure 2. Distribution of genetic diversity on chromosome 1 in human populations.

Presented on the y axis is the sum of derived allele frequency over all polymorphic loci in 1000 Genomes African data, estimated by 50,000 bp non-overlapping segments of chromosome 1, relative to the divergence of the human reference sequence from the ancestral sequence (determined by the 6 primate sequence consensus). Red dotted line indicates the 1% cut-off considering the empirical genome-wide distribution. Only those 50,000 bp segments which had >90% sites covered in human, Altai Neanderthal and Denisovan data were considered.