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Figure 4
Segmental duplications across the genome. a, Segmental duplications and
sequence gaps across the genome. Segmental duplications are indicated below
the chromosomes in blue (length $10 kb and sequence identity $95%). Large
duplications are shown to approximate scale; smaller ones are indicated as
ticks. Sequence gaps are indicated above the chromosomes in red. Large gaps
(.300 kb) are shown to approximate scale; smaller gaps are indicated as
ticks with those that are 50 kb or smaller shown as shorter ticks. Unfinished
clones are indicated as black ticks. b, Percentage of large segmental
duplications by chromosome. This count includes both interchromosomal and
intrachromosomal duplications with length $1 kb and sequence identity $90%.
The blue bars show the result of direct analysis of near-complete sequence.
The gold bars show an independent estimate65 using whole-genome shotgun data
to correct for potential mis-assembly of such segmental duplications. The
strong agreement suggests that most segmental duplications are properly
represented in near-complete genome sequence. The discrepancy for chromosome
X is probably a result of errors in the independent estimate, due to limited
coverage and diversity of data from this chromosome15.
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