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. 2017 Oct 31;8:167. doi: 10.3389/fgene.2017.00167

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Copyright © 2017 Chen, Cole and Grond-Ginsbach.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Analysis of genotyped short variations in genomic region 17:56,000,000–64,000,000 (A,B) and genomic region 3:65,000,000–65,500,000 (C,D) from the 1000 Genomes Project, European Population. Upper figures (A,C) show log-transformed p-values for departures from HWE. Lower figures (B,D) show ratios of observed and expected (i.e., under Hardy-Weinberg Equilibrium) frequencies of heterozygous genotypes. Dots indicate true SNPs, rectangles symbolize variants of indel type. The bar (seen in C,D) indicates common deletion variant esv2657253, (http://www.ensembl.org/Homo_sapiens/StructuralVariation/Explore?r=3:65202694--65229573;sv,esv2657253;svf,3513219;vdb,variation). The arrow (seen in A,B) points to a region with of a degenerate repeat structure within the 5' end of the LRRC37A2 with strong homology with sequences of the LRRC37A3 gene, resulting in genotyping error.