Fig. 1.

Deduced human evolution for haplotypes of HP CNV (alleles 1 and 2) with HPR rs200999 (alleles A and G). The frequency of haplotype Hp1-A is extremely low, resulting in effectively three remaining haplotypes. Two cladograms can therefore be considered: panel ‘A’ is the plausible evolutionary route for the emergence of haplotype Hp2-A; panel ‘B’ is difficult to rationalise with the known genomic biology route, since this model requires the non-duplicon Hp1-G haplotype to have arisen from the duplicon haplotype Hp2-G.