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. 2015 Nov 11;7(12):3239–3248. doi: 10.1093/gbe/evv214

Fig. 1.

Fig. 1.

—Inference of structural profiles and cumulative frequencies of the 17q21 haplotypes in human groups. (A) Schematic representation of the 17q21.31 region in standard orientation. Light gray rectangle encompassing the physical location of the 17q21-inv (chromosome 17: 43,705,166–44,164,259, GRCh37). Dark gray rectangle encompassing the expected physical location of the H2-specific duplication—CNP155 (chromosome 17: 44,210,855–44,294,624, GRCh37). BAC probes used for dual-FISH experiments represented as green and red boxes. (B) Cytogenetic validation of 17q21-inv on four Hapmap cell lines. Green–Red–Green fluorescent-signal pattern indicates standard orientation; Green–Green–Red pattern indicates inverted orientation. SNP-derived haplotypes are shown in brackets. (C) Classification of copy-number profiles for the H2-specific CNP155 duplication using read-depth information of H2D/H2D (genotype-based) samples using a sliding window approach. Runs of horizontal green lines belong to the same CNV inferred. Dashed delimiters (vertical lines) specify the expected location of the CNP155 duplication. (D) Barplot displaying the frequency of the 17q21 structural haplotypes in human groups. Distinct colors represent each subhaplotype.