Figure 1.

Alignment of a human whole-genome shotgun sequencing data set to GRCh38 shown in the Integrated Genome Viewer. This region, which contains a copy of the HSATII repeat, is covered extremely deeply, over 1500-fold deeper than the rest of the genome. The region at the top shows a schematic of Chromosome 1, and below that is a histogram showing the depth of coverage, which peaks at 157,072. Individual reads in their aligned positions are shown as gray rectangles in the bottom portion of the figure. Mismatches are shown by red, blue, green, or brown marks, and gaps indicated by breaks in the gray rectangles connected with a thin black line. The numerous gaps and mismatches suggest that GRCh38 is missing many other copies of the HSATII repeat, some of which would provide a better match.

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