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Table 1 Structural variants detected by different methods

From: Towards a comprehensive structural variation map of an individual human genome

Method Type Number Minimum size (bp) Median size (bp) Maximum size (bp) Total size (bp)
Assembly comparison a Homo. insertion 275,512 1 2 82,711 3,117,039
  Homo. deletion 283,961 1 2 18,484 2,820,823
  Hetero. insertion 136,792 1 1 321 336,374
  Hetero. deletion 99,814 1 1 349 250,300
  Inversion 88 102 1,602 686,721 1,627,871
Mate-pair Insertion 780 346 3,588 28,344 3,880,544
  Deletion 1,494 340 3,611 1,669,696 10,531,345
  Inversion 105 368 3,121 2,026,495 8,068,541
Split-read Insertion 8,511 11 16 414 224,022
  Deletion 11,659 11 18 111,714 1,764,522
Agilent 24 M Duplication 194 445 1,274 113,465 1,065,617
  Deletion 319 439 1,198 852,404 2,779,880
NimbleGen 42 M Duplication 366 448 4,665 836,362 11,292,451
  Deletion 358 459 2,460 359,736 3,861,282
Affymetrix 6.0 Duplication 17 8,638 42,798 640,474 2,011,557
  Deletion 21 2,280 13,145 856,671 1,978,028
Illumina 1 M Duplication 3 11,539 22,148 87,670 121,357
  Deletion 9 8,576 32,199 145,662 431,131
Custom Agilent 244 k Duplication 44 219 1,356 8,737 98,529
  Deletion 7 170 332 2,258 4,130
Non-redundant total b Insertion/duplication 417,206 1 1 836,362 19,981,062
  Deletion 390,973 1 2 1,669,696 19,539,369
  Inversion 167 102 1,249 2,026,495 9,257,035
  1. aWe used an italicized font to distinguish the results from the Levy et al. [1] study. Moreover, from that previous study, we included all homozygous indels, heterozygous indels, indels embedded within simple, bi-allelic, and non-ambiguously mapped heterozygous mixed sequence variants, and only those inversions whose size is at most 3 Mb. bComplete data are presented in Additional files 19, 20 and 21. Non-redundant variation size distribution is presented in Figure 2a.