# Reference specification for hg19 see http://genome.ucsc.edu/cgi-bin/hgTracks?hgsid=184117983&chromInfoPage= version 1 # Unless otherwise specified, assume diploid linear. Well-formed chromosomes should be explicitly listed # separately so this applies primarily to unplaced contigs and decoy sequences either def diploid linear # List the autosomal chromosomes explicitly. These are used to help determine "normal" coverage levels # during mapping and variant calling either seq chr1 diploid linear either seq chr2 diploid linear either seq chr3 diploid linear either seq chr4 diploid linear either seq chr5 diploid linear either seq chr6 diploid linear either seq chr7 diploid linear either seq chr8 diploid linear either seq chr9 diploid linear either seq chr10 diploid linear either seq chr11 diploid linear either seq chr12 diploid linear either seq chr13 diploid linear either seq chr14 diploid linear either seq chr15 diploid linear either seq chr16 diploid linear either seq chr17 diploid linear either seq chr18 diploid linear either seq chr19 diploid linear either seq chr20 diploid linear either seq chr21 diploid linear either seq chr22 diploid linear # Define how the male and female get the X and Y chromosomes male seq chrX haploid linear chrY male seq chrY haploid linear chrX female seq chrX diploid linear female seq chrY none linear #PAR1 pseudoautosomal region male dup chrX:60001-2699520 chrY:10001-2649520 #PAR2 pseudoautosomal region male dup chrX:154931044-155260560 chrY:59034050-59363566 # And the mitochondria either seq chrM polyploid circular