# Reference specification for GRCh37 see http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/human/ 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 1 diploid linear either seq 2 diploid linear either seq 3 diploid linear either seq 4 diploid linear either seq 5 diploid linear either seq 6 diploid linear either seq 7 diploid linear either seq 8 diploid linear either seq 9 diploid linear either seq 10 diploid linear either seq 11 diploid linear either seq 12 diploid linear either seq 13 diploid linear either seq 14 diploid linear either seq 15 diploid linear either seq 16 diploid linear either seq 17 diploid linear either seq 18 diploid linear either seq 19 diploid linear either seq 20 diploid linear either seq 21 diploid linear either seq 22 diploid linear # Define how the male and female get the X and Y chromosomes male seq X haploid linear Y male seq Y haploid linear X female seq X diploid linear female seq Y none linear #PAR1 pseudoautosomal region male dup X:60001-2699520 Y:10001-2649520 #PAR2 pseudoautosomal region male dup X:154931044-155260560 Y:59034050-59363566 # And the mitochondria either seq MT polyploid circular