Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K.

Nat Genet. 2005 Feb;37(2):129-37. doi:10.1038/ng1508

A common inversion under selection in Europeans.

A 900-kb inversion polymorphism on 17q21.31 that has diverged ~3 million years ago. One allele is rare exept in Europe, where it is positively selected. Low-copy repeat sequences were found in the vicinity of the inversion.