Figure 2 Sequence Read Depth Analysis of DUP4 Homozygotes and Heterozygotes
(A) Normalized sequence read depth of 5 kb windows spanning the reference sequence glycophorin region for five samples. The lines show the Loess regression line (f = 0.1) for homozygotes (blue) and heterozygotes (green). Gene positions and repeats, with respect to the reference sequence, are shown above the plot.
(B) The difference in HG02554 sequence read depth compared to the average sequence read depth of the two other heterozygotes C05E and C05P is shown in 5 kb windows across the glycophorin region. Points highlighted in red are significantly different (p < 0.01).