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Figure 6 | BMC Genomics

Figure 6

From: Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

Figure 6

Comparison of arrayCGH profiles of patients with 1q21 deletions and duplications between the GRCh37/hg19 assembly and the CHM1 assembly. Samples with known duplications are represented in pink, Type I deletions in blue, and Type II deletions, which are larger than Type I deletions and include the thrombocytopenia-absent radius (TAR) region, in black. Gray vertical regions in the GRCh37/hg19 assembly represent gaps that were eliminated in the CHM1 assembly. Green bars above the GRCh37map and below the CHM1 map indicate the approximate location of the Type I deletion in each assembly. Note that the inverted gene segment in the CHM1 assembly requires a two-deletion event rather than single-deletion event to explain the Type I deletion mapping pattern. Tick marks at the bottom of the figure are separated by 2 Mb; the GRCh37 assembly starts at 142,000,000 and the CHM1 assembly starts at 0.

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