esv2665317
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:65
- Validation:Yes
- Clinical Assertions: No
- Region Size:22,208
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 370 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2665317 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,789,626 | 7,811,831 |
| esv2665317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| esv2665317 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| esv2665317 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,811,173 | 7,833,378 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5401692 | deletion | SAMN00007814 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
| essv5427405 | deletion | SAMN00007868 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 904 |
| essv5476782 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
| essv5516773 | deletion | SAMN00001639 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,246 |
| essv5538458 | deletion | SAMN00006586 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
| essv5548394 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
| essv5561548 | deletion | SAMN00001101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
| essv5577488 | deletion | SAMN00000922 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv5608957 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
| essv5617173 | deletion | SAMN00006556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,746 |
| essv5627047 | deletion | SAMN00007825 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 862 |
| essv5630299 | deletion | SAMN00004651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv5644957 | deletion | SAMN00001191 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,461 |
| essv5656027 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv5684696 | deletion | SAMN00000476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5690149 | deletion | SAMN00006472 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
| essv5690717 | deletion | SAMN00014347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5698546 | deletion | SAMN00000532 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 998 |
| essv5699417 | deletion | SAMN00000474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,357 |
| essv5719980 | deletion | SAMN00006573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,689 |
| essv5720703 | deletion | SAMN00004689 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,655 |
| essv5732845 | deletion | SAMN00001144 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,691 |
| essv5750163 | deletion | SAMN00009156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,323 |
| essv5754840 | deletion | SAMN00001538 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,072 |
| essv5772934 | deletion | SAMN00000522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,036 |
| essv5801073 | deletion | SAMN00009148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 429 |
| essv5857211 | deletion | SAMN00001103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,547 |
| essv5869640 | deletion | SAMN00000555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
| essv5884728 | deletion | SAMN00000570 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 924 |
| essv5885454 | deletion | SAMN00001032 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 996 |
| essv5893977 | deletion | SAMN00009129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,769 |
| essv5903220 | deletion | SAMN00001037 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,232 |
| essv5908044 | deletion | SAMN00001153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,528 |
| essv5920530 | deletion | SAMN00000572 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,233 |
| essv5921442 | deletion | SAMN00001136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv5953034 | deletion | SAMN00000480 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 937 |
| essv6000927 | deletion | SAMN00000433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,612 |
| essv6051306 | deletion | SAMN00001133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv6051628 | deletion | SAMN00000536 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
| essv6071590 | deletion | SAMN00000434 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv6113976 | deletion | SAMN00001190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv6115575 | deletion | SAMN00001648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,343 |
| essv6127781 | deletion | SAMN00007843 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 841 |
| essv6214691 | deletion | SAMN00001109 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 966 |
| essv6232191 | deletion | SAMN00006537 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,102 |
| essv6239391 | deletion | SAMN00000507 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6240236 | deletion | SAMN00001222 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 931 |
| essv6248508 | deletion | SAMN00001148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv6249962 | deletion | SAMN00000439 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,142 |
| essv6259452 | deletion | SAMN00007738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,656 |
| essv6263558 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv6274135 | deletion | SAMN00009146 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
| essv6287333 | deletion | SAMN00006514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv6289512 | deletion | SAMN00001671 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,447 |
| essv6296198 | deletion | SAMN00001626 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,427 |
| essv6300256 | deletion | SAMN00001162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,432 |
| essv6342367 | deletion | SAMN00001578 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,497 |
| essv6452102 | deletion | SAMN00001322 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 893 |
| essv6457958 | deletion | SAMN00007870 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 837 |
| essv6467831 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv6493135 | deletion | SAMN00001583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,451 |
| essv6517382 | deletion | SAMN00006366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
| essv6563983 | deletion | SAMN00001158 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,358 |
| essv6585750 | deletion | SAMN00001139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,535 |
| essv6594729 | deletion | SAMN00007810 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5401692 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5427405 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5476782 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5516773 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5538458 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5548394 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5561548 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5577488 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5608957 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5617173 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5627047 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5630299 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5644957 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5656027 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5684696 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5690149 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5690717 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5698546 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5699417 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5719980 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5720703 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5732845 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5750163 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5754840 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5772934 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5801073 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5857211 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5869640 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5884728 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5885454 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5893977 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5903220 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5908044 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5920530 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5921442 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5953034 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6000927 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6051306 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6051628 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6071590 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6113976 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6115575 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6127781 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6214691 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6232191 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6239391 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6240236 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6248508 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6249962 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6259452 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6263558 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6274135 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6287333 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6289512 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6296198 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6300256 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6342367 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6452102 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6457958 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6467831 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6493135 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6517382 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6563983 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6585750 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv6594729 | Remapped | Perfect | NT_187583.1:g.1049 4_32699delA | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,699 |
| essv5401692 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5427405 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5476782 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5516773 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5538458 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5548394 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5561548 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5577488 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5608957 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5617173 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5627047 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5630299 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5644957 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5656027 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5684696 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5690149 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5690717 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5698546 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5699417 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5719980 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5720703 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5732845 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5750163 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5754840 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5772934 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5801073 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5857211 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5869640 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5884728 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5885454 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5893977 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5903220 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5908044 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5920530 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
| essv5921442 | Remapped | Good | NW_011332695.1:g.1 0494_32701delA | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,701 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6000927 | 9 | SAMN00000433 | Oligo aCGH | Probe signal intensity | Pass |
| essv6071590 | 9 | SAMN00000434 | Oligo aCGH | Probe signal intensity | Pass |
| essv6249962 | 9 | SAMN00000439 | Oligo aCGH | Probe signal intensity | Pass |
| essv5699417 | 9 | SAMN00000474 | Oligo aCGH | Probe signal intensity | Pass |
| essv6263558 | 9 | SAMN00000475 | Oligo aCGH | Probe signal intensity | Pass |
| essv5684696 | 9 | SAMN00000476 | Oligo aCGH | Probe signal intensity | Pass |
| essv5953034 | 9 | SAMN00000480 | Oligo aCGH | Probe signal intensity | Pass |
| essv6239391 | 9 | SAMN00000507 | Oligo aCGH | Probe signal intensity | Pass |
| essv5772934 | 9 | SAMN00000522 | Oligo aCGH | Probe signal intensity | Pass |
| essv5698546 | 9 | SAMN00000532 | Oligo aCGH | Probe signal intensity | Pass |
| essv6051628 | 9 | SAMN00000536 | Oligo aCGH | Probe signal intensity | Pass |
| essv5869640 | 9 | SAMN00000555 | Oligo aCGH | Probe signal intensity | Pass |
| essv5884728 | 9 | SAMN00000570 | Oligo aCGH | Probe signal intensity | Pass |
| essv5920530 | 9 | SAMN00000572 | Oligo aCGH | Probe signal intensity | Pass |
| essv5577488 | 9 | SAMN00000922 | Oligo aCGH | Probe signal intensity | Pass |
| essv5885454 | 9 | SAMN00001032 | Oligo aCGH | Probe signal intensity | Pass |
| essv5903220 | 9 | SAMN00001037 | Oligo aCGH | Probe signal intensity | Pass |
| essv5561548 | 9 | SAMN00001101 | Oligo aCGH | Probe signal intensity | Pass |
| essv5857211 | 9 | SAMN00001103 | Oligo aCGH | Probe signal intensity | Pass |
| essv6214691 | 9 | SAMN00001109 | Oligo aCGH | Probe signal intensity | Pass |
| essv6467831 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Pass |
| essv6051306 | 9 | SAMN00001133 | Oligo aCGH | Probe signal intensity | Pass |
| essv5921442 | 9 | SAMN00001136 | Oligo aCGH | Probe signal intensity | Pass |
| essv5656027 | 9 | SAMN00001138 | Oligo aCGH | Probe signal intensity | Pass |
| essv6585750 | 9 | SAMN00001139 | Oligo aCGH | Probe signal intensity | Pass |
| essv5732845 | 9 | SAMN00001144 | Oligo aCGH | Probe signal intensity | Pass |
| essv6248508 | 9 | SAMN00001148 | Oligo aCGH | Probe signal intensity | Pass |
| essv5908044 | 9 | SAMN00001153 | Oligo aCGH | Probe signal intensity | Pass |
| essv6563983 | 9 | SAMN00001158 | Oligo aCGH | Probe signal intensity | Pass |
| essv6300256 | 9 | SAMN00001162 | Oligo aCGH | Probe signal intensity | Pass |
| essv5476782 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Pass |
| essv5548394 | 9 | SAMN00001173 | Oligo aCGH | Probe signal intensity | Pass |
| essv6113976 | 9 | SAMN00001190 | Oligo aCGH | Probe signal intensity | Pass |
| essv5644957 | 9 | SAMN00001191 | Oligo aCGH | Probe signal intensity | Pass |
| essv6240236 | 9 | SAMN00001222 | Oligo aCGH | Probe signal intensity | Pass |
| essv6452102 | 9 | SAMN00001322 | Oligo aCGH | Probe signal intensity | Pass |
| essv5754840 | 9 | SAMN00001538 | Oligo aCGH | Probe signal intensity | Pass |
| essv6342367 | 9 | SAMN00001578 | Oligo aCGH | Probe signal intensity | Pass |
| essv6493135 | 9 | SAMN00001583 | Oligo aCGH | Probe signal intensity | Pass |
| essv6296198 | 9 | SAMN00001626 | Oligo aCGH | Probe signal intensity | Pass |
| essv5516773 | 9 | SAMN00001639 | Oligo aCGH | Probe signal intensity | Pass |
| essv6115575 | 9 | SAMN00001648 | Oligo aCGH | Probe signal intensity | Pass |
| essv6289512 | 9 | SAMN00001671 | Oligo aCGH | Probe signal intensity | Pass |
| essv5630299 | 9 | SAMN00004651 | Oligo aCGH | Probe signal intensity | Pass |
| essv5720703 | 9 | SAMN00004689 | Oligo aCGH | Probe signal intensity | Pass |
| essv6517382 | 9 | SAMN00006366 | Oligo aCGH | Probe signal intensity | Pass |
| essv5690149 | 9 | SAMN00006472 | Oligo aCGH | Probe signal intensity | Pass |
| essv6287333 | 9 | SAMN00006514 | Oligo aCGH | Probe signal intensity | Pass |
| essv6232191 | 9 | SAMN00006537 | Oligo aCGH | Probe signal intensity | Pass |
| essv5617173 | 9 | SAMN00006556 | Oligo aCGH | Probe signal intensity | Pass |
| essv5719980 | 9 | SAMN00006573 | Oligo aCGH | Probe signal intensity | Pass |
| essv5538458 | 9 | SAMN00006586 | Oligo aCGH | Probe signal intensity | Pass |
| essv6259452 | 9 | SAMN00007738 | Oligo aCGH | Probe signal intensity | Pass |
| essv5608957 | 9 | SAMN00007743 | Oligo aCGH | Probe signal intensity | Pass |
| essv6594729 | 9 | SAMN00007810 | Oligo aCGH | Probe signal intensity | Pass |
| essv5401692 | 9 | SAMN00007814 | Oligo aCGH | Probe signal intensity | Pass |
| essv5627047 | 9 | SAMN00007825 | Oligo aCGH | Probe signal intensity | Pass |
| essv6127781 | 9 | SAMN00007843 | Oligo aCGH | Probe signal intensity | Pass |
| essv5427405 | 9 | SAMN00007868 | Oligo aCGH | Probe signal intensity | Pass |
| essv6457958 | 9 | SAMN00007870 | Oligo aCGH | Probe signal intensity | Pass |
| essv5893977 | 9 | SAMN00009129 | Oligo aCGH | Probe signal intensity | Pass |
| essv6274135 | 9 | SAMN00009146 | Oligo aCGH | Probe signal intensity | Pass |
| essv5801073 | 9 | SAMN00009148 | Oligo aCGH | Probe signal intensity | Pass |
| essv5750163 | 9 | SAMN00009156 | Oligo aCGH | Probe signal intensity | Pass |
| essv5690717 | 9 | SAMN00014347 | Oligo aCGH | Probe signal intensity | Pass |
| essv6000927 | 7 | SAMN00000433 | SNP array | Probe signal intensity | Pass |
| essv6071590 | 7 | SAMN00000434 | SNP array | Probe signal intensity | Pass |
| essv6249962 | 7 | SAMN00000439 | SNP array | Probe signal intensity | Pass |
| essv5699417 | 7 | SAMN00000474 | SNP array | Probe signal intensity | Pass |
| essv6263558 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
| essv5684696 | 7 | SAMN00000476 | SNP array | Probe signal intensity | Pass |
| essv5953034 | 7 | SAMN00000480 | SNP array | Probe signal intensity | Pass |
| essv6239391 | 7 | SAMN00000507 | SNP array | Probe signal intensity | Pass |
| essv5772934 | 7 | SAMN00000522 | SNP array | Probe signal intensity | Pass |
| essv5698546 | 7 | SAMN00000532 | SNP array | Probe signal intensity | Pass |
| essv6051628 | 7 | SAMN00000536 | SNP array | Probe signal intensity | Pass |
| essv5869640 | 7 | SAMN00000555 | SNP array | Probe signal intensity | Pass |
| essv5884728 | 7 | SAMN00000570 | SNP array | Probe signal intensity | Pass |
| essv5920530 | 7 | SAMN00000572 | SNP array | Probe signal intensity | Pass |
| essv5577488 | 7 | SAMN00000922 | SNP array | Probe signal intensity | Pass |
| essv5885454 | 7 | SAMN00001032 | SNP array | Probe signal intensity | Pass |
| essv5903220 | 7 | SAMN00001037 | SNP array | Probe signal intensity | Pass |
| essv5561548 | 7 | SAMN00001101 | SNP array | Probe signal intensity | Pass |
| essv5857211 | 7 | SAMN00001103 | SNP array | Probe signal intensity | Pass |
| essv6214691 | 7 | SAMN00001109 | SNP array | Probe signal intensity | Pass |
| essv6467831 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv6051306 | 7 | SAMN00001133 | SNP array | Probe signal intensity | Pass |
| essv5921442 | 7 | SAMN00001136 | SNP array | Probe signal intensity | Pass |
| essv5656027 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
| essv6585750 | 7 | SAMN00001139 | SNP array | Probe signal intensity | Pass |
| essv5732845 | 7 | SAMN00001144 | SNP array | Probe signal intensity | Pass |
| essv6248508 | 7 | SAMN00001148 | SNP array | Probe signal intensity | Pass |
| essv5908044 | 7 | SAMN00001153 | SNP array | Probe signal intensity | Pass |
| essv6563983 | 7 | SAMN00001158 | SNP array | Probe signal intensity | Pass |
| essv6300256 | 7 | SAMN00001162 | SNP array | Probe signal intensity | Pass |
| essv5476782 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
| essv5548394 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
| essv6113976 | 7 | SAMN00001190 | SNP array | Probe signal intensity | Pass |
| essv5644957 | 7 | SAMN00001191 | SNP array | Probe signal intensity | Pass |
| essv6240236 | 7 | SAMN00001222 | SNP array | Probe signal intensity | Pass |
| essv6452102 | 7 | SAMN00001322 | SNP array | Probe signal intensity | Pass |
| essv5754840 | 7 | SAMN00001538 | SNP array | Probe signal intensity | Pass |
| essv6342367 | 7 | SAMN00001578 | SNP array | Probe signal intensity | Pass |
| essv6493135 | 7 | SAMN00001583 | SNP array | Probe signal intensity | Pass |
| essv6296198 | 7 | SAMN00001626 | SNP array | Probe signal intensity | Pass |
| essv5516773 | 7 | SAMN00001639 | SNP array | Probe signal intensity | Pass |
| essv6115575 | 7 | SAMN00001648 | SNP array | Probe signal intensity | Pass |
| essv6289512 | 7 | SAMN00001671 | SNP array | Probe signal intensity | Pass |
| essv5630299 | 7 | SAMN00004651 | SNP array | Probe signal intensity | Pass |
| essv5720703 | 7 | SAMN00004689 | SNP array | Probe signal intensity | Pass |
| essv6517382 | 7 | SAMN00006366 | SNP array | Probe signal intensity | Pass |
| essv5690149 | 7 | SAMN00006472 | SNP array | Probe signal intensity | Pass |
| essv6287333 | 7 | SAMN00006514 | SNP array | Probe signal intensity | Pass |
| essv6232191 | 7 | SAMN00006537 | SNP array | Probe signal intensity | Pass |
| essv5617173 | 7 | SAMN00006556 | SNP array | Probe signal intensity | Pass |
| essv5719980 | 7 | SAMN00006573 | SNP array | Probe signal intensity | Pass |
| essv5538458 | 7 | SAMN00006586 | SNP array | Probe signal intensity | Pass |
| essv6259452 | 7 | SAMN00007738 | SNP array | Probe signal intensity | Pass |
| essv5608957 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
| essv6594729 | 7 | SAMN00007810 | SNP array | Probe signal intensity | Pass |
| essv5401692 | 7 | SAMN00007814 | SNP array | Probe signal intensity | Pass |
| essv5627047 | 7 | SAMN00007825 | SNP array | Probe signal intensity | Pass |
| essv6127781 | 7 | SAMN00007843 | SNP array | Probe signal intensity | Pass |
| essv5427405 | 7 | SAMN00007868 | SNP array | Probe signal intensity | Pass |
| essv6457958 | 7 | SAMN00007870 | SNP array | Probe signal intensity | Pass |
| essv5893977 | 7 | SAMN00009129 | SNP array | Probe signal intensity | Pass |
| essv6274135 | 7 | SAMN00009146 | SNP array | Probe signal intensity | Pass |
| essv5801073 | 7 | SAMN00009148 | SNP array | Probe signal intensity | Pass |
| essv5750163 | 7 | SAMN00009156 | SNP array | Probe signal intensity | Pass |
| essv5690717 | 7 | SAMN00014347 | SNP array | Probe signal intensity | Pass |