Population Statistics section

The Population Statistics section addresses detailed population allele data across various ethnicities in public and internal databases.

• Public databases (SNVs): 1000 Genomes, ESP 6500, ExAC, and gnomAD

• Public databases (CNVs): 1000 Genomes, gnomAD SV, Decipher, DGV

• Internal databases: EmedgeneDB and organization's NoiseDB or other custom databases

By clicking on a particular row of the table, it will provide additional details including alternative allele frequency, alternative allele count, and homozygotes count reported for the selected population by different sources.

Population Statistics for mtDNA variants

The Population Statistics section displays population allele data across various ethnicities in:

• Public databases: gnomAD and MITOMAP

• Internal databases: EmedgeneDB and organization's NoiseDB or other custom databases

By clicking on a particular row of the table, it will provide additional details including the highest homoplasmy frequency, heteroplasmy count, homoplasmy count, and the total number of samples.