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Comment by amphitoky

no, it is a consensus sequence determined by sequencing the genomes of several individuals. i do not know how many individuals were sequenced for hg38, but hg37 was derived from 13 individuals according to [1].

genomic regions with higher variability between individuals are annotated separately and are not represented in the main chromosomal sequence, but can be aligned to it as such.

[1] https://en.wikipedia.org/wiki/Reference_genome

parent amphitoky 10 years ago

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