Table 1.
Genotyping Parameters of the Reference Database
Table 2.
Hg Frequencies
Figure 1.
HVS-I Identity by Descent or by State
A theoretically evolving tree is presented. Coding-region polymorphisms are in black. HVS-I polymorphisms are in red. Samples A and B share HVS-I haplotype 16303 by descent. Samples A and D or B and D share HVS-I haplotype 16303 by state and as a result of homoplasy. Samples C and E are identical by state as a result of a back mutation in position 16303 in sample C as marked by the “BM” designation.
Figure 2.
The number of accumulated mtDNA HVS-I haplotypes (A and B) and polymorphic sites (C and D) as a function of the number of accumulating samples is shown. The analysis is presented once for the entire database (A and C) and once for a limited number of samples (B and D), allowing a better comparison with the less well-represented geographic groups. The Hgs were grossly divided to represent four different geographic groups as follows. Africa: L, M1, and U6; East Asia-Americas: A, B, C, D, F, N9a, and R9; South Asia: M*, R1, R2, R5, and R6; and West Eurasia: N1, R, W, and X. Saturation curves for Hg H are also presented.
Figure 3.
The figure presents a simple map made up from all polymorphic sites observed in the sequenced region 16024–16569 without denoting their frequencies. Conclusions regarding the number of times each observed position was hit during Homo sapiens' evolution can not be inferred.
Figure 4.
The Phylogeny of mtDNA Haplogroups Inferred from the Panel of 22 Coding-Region SNPs Used in the Genographic Project
The coding-region mutations are shown on the branches. The frequencies of the haplogroups found among the Genographic participants are shown in brackets beside the Hgs assignments and correspond to Table 2. Note that the figure discriminates between haplogroups L0 and L1 while the coding-region SNPs used during genotyping do not distinguish the two and therefore they are labeled throughout the paper as L0/L1.