Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

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Figure 1.
Figure 1.

Genome assembly of the 8p23.1 region Highlighted is the REPD region containing one of two beta-defensin repeat units assembled, separated by a gap. The repeat classes II–V are from Taudien et al. (2004). Sites for assays for beta-defensin copy number are also shown, including PRT, MAPH, MLPA, and REDVR (Hollox et al. 2008). EPEV-1–EPEV-3 refer to simple tandem repeats used for copy number and segregation analysis in pedigrees. The segmental duplication track is based on the data from Bailey et al. (2001); (light to dark gray) 90%–98% similarity with its duplicate; (yellow) 98%–99% similarity; (orange) >99% similarity. Based on UCSC Genome Browser (http://genome.ucsc.edu) build hg18.

This Article

  1. Genome Res. 18: 1686-1697

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