I found entries for chr "PAR" in the latest 1000genomes vcf file. Does anyone know what that stands for? Thanks
I found entries for chr "PAR" in the latest 1000genomes vcf file. Does anyone know what that stands for? Thanks
PAR = Pseudo-Autosomal Regions
see also this question: Coordinates Of Par Regions On Ensembl Y Chromosome
It wouldn't hurt here to explain Pseudo-Autosomal Regions. Autosomal (Chromosomes 1-22 in humans) always show up in pairs.
Since they can appear as single copies in males Y and the X chromosomes are not autosomal chromosomes. BTW they still don't behave as autosomal chromosomes in females where there appear in pairs.
The PAR regions are the 2 spans which are still very similar, remnants of the time when the X and Y diverged from a single autosomal chromosome. Especially for applications which want to know the number of copies of a chromosome or segment, its useful to keep track of the PARs.
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Thanks Pierre, you are to the point, as always.