Figure 1

Beta-defensin cluster on human chromosome 8p23.1. (A) In the UCSC Genome Browser (GRCh37 hg19 chr8:7,158,554-7,855,043), two gene clusters are arranged on both sides of a clone gap and in opposite direction, illustrated by the grey arrows and named DEF cluster b1 and b2. Segmental duplications are flanking the clusters or are part of it. (B) Zoom of DEF cluster b1 with genes / pseudogenes and the distally located 80 kb low copy repeat (LCR) previously described [9]. Dots indicate MLPA probes, PRT amplicons and microsatellites used for individual DEF cluster b CN determination by us and others [5, 26, 33]. The MLPA probe for DEFB108P (grey, in parantheses) was removed from the current kit version due to inconsistent results. Indels investigated in this study to narrow down the CNV borders are numbered from 1 to 7.