The human type II collagen gene (COL2A1) assigned to 12q14.3.

A cosmid clone containing the entire human type II alpha 1 collagen gene (COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing different portions of human chromosome 12. Two of the hybrids exhibited a similar terminal deletion q14.3----qter, but one was positive for the gene while the other was negative. Therefore, the gene must reside in the region q14.3.