Table 2.
Unified technology callset for copy number gain and loss structural variation
| HG00514 | HG00733 | NA19240 | ||||
|---|---|---|---|---|---|---|
| Count | Average length | Count | Average length | Count | Average length | |
| Deletions | ||||||
| PacBio | 4662 | 195.7 | 5074 | 193.1 | 5586 | 205.0 |
| Illumina | 1387 | 792.0 | 1251 | 563.1 | 1760 | 664.9 |
| Bionano | 109 | 11,7901.6 | 88 | 86,440.9 | 113 | 115,099.1 |
| PacBio,Illumina | 3403 | 298.0 | 3482 | 294.2 | 4132 | 308.3 |
| PacBio,Bionano | 128 | 7569.5 | 128 | 4523.8 | 119 | 4633.7 |
| Illumina,Bionano | 50 | 8516.0 | 42 | 9680.3 | 54 | 9767.3 |
| All | 552 | 3997.0 | 542 | 4076.8 | 657 | 3647.4 |
| Total | 10,291 | 1892.6 | 10,607 | 1273.7 | 12,421 | 1615.9 |
| Insertions | ||||||
| PacBio | 11,314 | 294.2 | 12,272 | 302.7 | 12,080 | 285.0 |
| Illumina | 533 | 501.4 | 483 | 1610.6 | 663 | 2163.7 |
| Bionano | 473 | 21,452.6 | 418 | 18,346.5 | 497 | 16,700.6 |
| PacBio,Illumina | 2146 | 239.5 | 2236 | 262.5 | 2631 | 260.6 |
| PacBio,Bionano | 984 | 2539.3 | 1052 | 2510.8 | 1035 | 2501.2 |
| Illumina,Bionano | 33 | 14,733.4 | 22 | 5905.0 | 26 | 6541.4 |
| All | 83 | 3500.9 | 83 | 3808.6 | 94 | 3751.8 |
| Total | 15,566 | 1126.3 | 16,566 | 955.9 | 17,026 | 997.0 |