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Chunk #12 — Results — Overview of data generation, alignment and variant discovery — Rates of variant discovery

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A map of human genome variation from population-scale sequencing.
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In the trio project, with an average mapped sequence coverage of 42x per individual across six individuals and 2.3 Gb of accessible genome, we identified 5.9 million SNPs, 650,000 short indels (of 1-50 bp in length), and over 14,000 larger SVs. In the low coverage project, with average mapped coverage of 3.6x per individual across 179 individuals (Supplementary Fig. 2) and 2.4 Gb of accessible genome, we identified 14.4 million SNPs, 1.3 million short indels, and over 20,000 larger SVs. In the exon project, with an average mapped sequence coverage of 56x per individual across 697 individuals and a 1.4 Mb target, we identified 12,758 SNPs and 98 indels.