We performed breakpoint assembly using pooled Illumina WGS and Pacific Biosciences (PacBio) sequencing data22, and additionally performed split-read analysis23 of short reads, to resolve the fine-resolution breakpoint structure of 37,250 SVs (29,954 deletions, 357 tandem duplications, 6,919 MEIs, and 20 inversions; Supplementary Table 3). Breakpoint assemblies showed a mean boundary precision of 0–15 bp for all SV types, with the exception of inversions and duplications for which we achieved mean precision estimates of 32 bp and 683 bp, respectively (Table 1, Fig. 1c).
