esv2670492
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:83
- Validation:Yes
- Clinical Assertions: No
- Region Size:7,373
- Description:High quality site
- 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: 242 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2670492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| esv2670492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5403837 | deletion | SAMN00001133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv5415161 | deletion | SAMN00000477 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,250 |
| essv5426136 | deletion | SAMN00000482 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 982 |
| essv5442905 | deletion | SAMN00000928 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,335 |
| essv5452613 | deletion | SAMN00006596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,607 |
| essv5455265 | deletion | SAMN00006478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,718 |
| essv5464692 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv5466361 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5484041 | deletion | SAMN00001188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,129 |
| essv5499499 | deletion | SAMN00001660 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,173 |
| essv5508946 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv5532227 | deletion | SAMN00001144 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,691 |
| essv5554389 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
| essv5591801 | deletion | SAMN00001191 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,461 |
| essv5602927 | deletion | SAMN00001187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv5604166 | deletion | SAMN00014342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,537 |
| essv5612150 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv5636757 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv5639296 | deletion | SAMN00001036 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,348 |
| essv5643727 | deletion | SAMN00000530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,423 |
| essv5645251 | deletion | SAMN00000484 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
| essv5656863 | deletion | SAMN00001674 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
| essv5672544 | deletion | SAMN00007807 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,402 |
| essv5674909 | deletion | SAMN00001035 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,325 |
| essv5678086 | deletion | SAMN00001117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,366 |
| essv5736414 | deletion | SAMN00001156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
| essv5758700 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
| essv5770327 | deletion | SAMN00000414 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,260 |
| essv5772868 | deletion | SAMN00001132 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,614 |
| essv5775545 | deletion | SAMN00000418 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
| essv5784546 | deletion | SAMN00001171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
| essv5785278 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv5785396 | deletion | SAMN00004417 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,314 |
| essv5810503 | deletion | SAMN00001582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv5817227 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv5822143 | deletion | SAMN00000483 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
| essv5836150 | deletion | SAMN00001172 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,516 |
| essv5876254 | deletion | SAMN00000522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,036 |
| essv5883376 | deletion | SAMN00009184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,318 |
| essv5888750 | deletion | SAMN00001139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,535 |
| essv5898936 | deletion | SAMN00000432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv5924480 | deletion | SAMN00001134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
| essv5943749 | deletion | SAMN00001664 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 794 |
| essv5947291 | deletion | SAMN00000566 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 947 |
| essv5950920 | deletion | SAMN00006472 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
| essv5974479 | deletion | SAMN00001630 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,448 |
| essv5978337 | deletion | SAMN00001680 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 838 |
| essv6063037 | deletion | SAMN00001626 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,427 |
| essv6065053 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
| essv6091319 | deletion | SAMN00001587 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv6098065 | deletion | SAMN00006438 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,799 |
| essv6107621 | deletion | SAMN00006510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv6145344 | deletion | SAMN00001682 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 821 |
| essv6152957 | deletion | SAMN00006474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
| essv6158045 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
| essv6221129 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv6221623 | deletion | SAMN00006522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,660 |
| essv6224005 | deletion | SAMN00007825 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 862 |
| essv6228209 | deletion | SAMN00000570 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 924 |
| essv6230887 | deletion | SAMN00000453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 917 |
| essv6240400 | deletion | SAMN00001108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 901 |
| essv6240500 | deletion | SAMN00001160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
| essv6243364 | deletion | SAMN00001624 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,608 |
| essv6247341 | deletion | SAMN00001687 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 648 |
| essv6318684 | deletion | SAMN00007809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
| essv6326228 | deletion | SAMN00001590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,510 |
| essv6328209 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
| essv6342205 | deletion | SAMN00001032 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 996 |
| essv6360140 | deletion | SAMN00000565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
| essv6365654 | deletion | SAMN00006504 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv6377148 | deletion | SAMN00000415 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6403564 | deletion | SAMN00001671 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,447 |
| essv6427381 | deletion | SAMN00006589 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
| essv6473654 | deletion | SAMN00007700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,460 |
| essv6475759 | deletion | SAMN00000458 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv6480181 | deletion | SAMN00006481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
| essv6492671 | deletion | SAMN00001685 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
| essv6501194 | deletion | SAMN00006565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,730 |
| essv6501553 | deletion | SAMN00001576 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,882 |
| essv6509832 | deletion | SAMN00000555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
| essv6540349 | deletion | SAMN00000573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv6556654 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv6582982 | deletion | SAMN00000575 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5403837 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5415161 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5426136 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5442905 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5452613 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5455265 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5464692 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5466361 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5484041 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5499499 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5508946 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5532227 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5554389 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5591801 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5602927 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5604166 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5612150 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5636757 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5639296 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5643727 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5645251 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5656863 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5672544 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5674909 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5678086 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5736414 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5758700 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5770327 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5772868 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5775545 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5784546 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5785278 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5785396 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5810503 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5817227 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5822143 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5836150 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5876254 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5883376 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5888750 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5898936 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5924480 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5943749 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5947291 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5950920 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5974479 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5978337 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6063037 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6065053 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6091319 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6098065 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6107621 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6145344 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6152957 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6158045 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6221129 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6221623 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6224005 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6228209 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6230887 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6240400 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6240500 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6243364 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6247341 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6318684 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6326228 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6328209 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6342205 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6360140 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6365654 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6377148 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6403564 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6427381 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6473654 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6475759 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6480181 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6492671 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6501194 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6501553 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6509832 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6540349 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6556654 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv6582982 | Remapped | Perfect | NC_000012.12:g.863 01916_86309288delT ATATTATATATAA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,301,916 | 86,309,288 |
| essv5403837 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5415161 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5426136 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5442905 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5452613 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5455265 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5464692 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5466361 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5484041 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5499499 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5508946 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5532227 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5554389 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5591801 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5602927 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5604166 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 | ||
| essv5612150 | Submitted genomic | NC_000012.11:g.866 95694_86703066delT ATATTATATATAA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,695,694 | 86,703,066 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5770327 | 7 | SAMN00000414 | SNP array | Probe signal intensity | Pass |
| essv6377148 | 7 | SAMN00000415 | SNP array | Probe signal intensity | Pass |
| essv5775545 | 7 | SAMN00000418 | SNP array | Probe signal intensity | Pass |
| essv5898936 | 7 | SAMN00000432 | SNP array | Probe signal intensity | Pass |
| essv6230887 | 7 | SAMN00000453 | SNP array | Probe signal intensity | Pass |
| essv6475759 | 7 | SAMN00000458 | SNP array | Probe signal intensity | Pass |
| essv5415161 | 7 | SAMN00000477 | SNP array | Probe signal intensity | Pass |
| essv5426136 | 7 | SAMN00000482 | SNP array | Probe signal intensity | Pass |
| essv5822143 | 7 | SAMN00000483 | SNP array | Probe signal intensity | Pass |
| essv5645251 | 7 | SAMN00000484 | SNP array | Probe signal intensity | Pass |
| essv5876254 | 7 | SAMN00000522 | SNP array | Probe signal intensity | Pass |
| essv5643727 | 7 | SAMN00000530 | SNP array | Probe signal intensity | Pass |
| essv6509832 | 7 | SAMN00000555 | SNP array | Probe signal intensity | Pass |
| essv6360140 | 7 | SAMN00000565 | SNP array | Probe signal intensity | Pass |
| essv5947291 | 7 | SAMN00000566 | SNP array | Probe signal intensity | Pass |
| essv6228209 | 7 | SAMN00000570 | SNP array | Probe signal intensity | Pass |
| essv5508946 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv6540349 | 7 | SAMN00000573 | SNP array | Probe signal intensity | Pass |
| essv5464692 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv6582982 | 7 | SAMN00000575 | SNP array | Probe signal intensity | Pass |
| essv5442905 | 7 | SAMN00000928 | SNP array | Probe signal intensity | Pass |
| essv6342205 | 7 | SAMN00001032 | SNP array | Probe signal intensity | Pass |
| essv5674909 | 7 | SAMN00001035 | SNP array | Probe signal intensity | Pass |
| essv5639296 | 7 | SAMN00001036 | SNP array | Probe signal intensity | Pass |
| essv6240400 | 7 | SAMN00001108 | SNP array | Probe signal intensity | Pass |
| essv5678086 | 7 | SAMN00001117 | SNP array | Probe signal intensity | Pass |
| essv5636757 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
| essv5772868 | 7 | SAMN00001132 | SNP array | Probe signal intensity | Pass |
| essv5403837 | 7 | SAMN00001133 | SNP array | Probe signal intensity | Pass |
| essv5924480 | 7 | SAMN00001134 | SNP array | Probe signal intensity | Pass |
| essv5817227 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
| essv5888750 | 7 | SAMN00001139 | SNP array | Probe signal intensity | Pass |
| essv6158045 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv5532227 | 7 | SAMN00001144 | SNP array | Probe signal intensity | Pass |
| essv5736414 | 7 | SAMN00001156 | SNP array | Probe signal intensity | Pass |
| essv6240500 | 7 | SAMN00001160 | SNP array | Probe signal intensity | Pass |
| essv5554389 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
| essv5466361 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv5784546 | 7 | SAMN00001171 | SNP array | Probe signal intensity | Pass |
| essv5836150 | 7 | SAMN00001172 | SNP array | Probe signal intensity | Pass |
| essv6556654 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv6065053 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
| essv5612150 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
| essv5602927 | 7 | SAMN00001187 | SNP array | Probe signal intensity | Pass |
| essv5484041 | 7 | SAMN00001188 | SNP array | Probe signal intensity | Pass |
| essv5591801 | 7 | SAMN00001191 | SNP array | Probe signal intensity | Pass |
| essv6501553 | 7 | SAMN00001576 | SNP array | Probe signal intensity | Pass |
| essv5810503 | 7 | SAMN00001582 | SNP array | Probe signal intensity | Pass |
| essv6091319 | 7 | SAMN00001587 | SNP array | Probe signal intensity | Pass |
| essv6326228 | 7 | SAMN00001590 | SNP array | Probe signal intensity | Pass |
| essv6243364 | 7 | SAMN00001624 | SNP array | Probe signal intensity | Pass |
| essv6063037 | 7 | SAMN00001626 | SNP array | Probe signal intensity | Pass |
| essv5974479 | 7 | SAMN00001630 | SNP array | Probe signal intensity | Pass |
| essv5499499 | 7 | SAMN00001660 | SNP array | Probe signal intensity | Pass |
| essv5943749 | 7 | SAMN00001664 | SNP array | Probe signal intensity | Pass |
| essv5785278 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv6403564 | 7 | SAMN00001671 | SNP array | Probe signal intensity | Pass |
| essv5656863 | 7 | SAMN00001674 | SNP array | Probe signal intensity | Pass |
| essv5978337 | 7 | SAMN00001680 | SNP array | Probe signal intensity | Pass |
| essv6145344 | 7 | SAMN00001682 | SNP array | Probe signal intensity | Pass |
| essv6492671 | 7 | SAMN00001685 | SNP array | Probe signal intensity | Pass |
| essv6247341 | 7 | SAMN00001687 | SNP array | Probe signal intensity | Pass |
| essv6221129 | 7 | SAMN00001697 | SNP array | Probe signal intensity | Pass |
| essv5785396 | 7 | SAMN00004417 | SNP array | Probe signal intensity | Pass |
| essv6328209 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
| essv6098065 | 7 | SAMN00006438 | SNP array | Probe signal intensity | Pass |
| essv5950920 | 7 | SAMN00006472 | SNP array | Probe signal intensity | Pass |
| essv6152957 | 7 | SAMN00006474 | SNP array | Probe signal intensity | Pass |
| essv5455265 | 7 | SAMN00006478 | SNP array | Probe signal intensity | Pass |
| essv6480181 | 7 | SAMN00006481 | SNP array | Probe signal intensity | Pass |
| essv6365654 | 7 | SAMN00006504 | SNP array | Probe signal intensity | Pass |
| essv6107621 | 7 | SAMN00006510 | SNP array | Probe signal intensity | Pass |
| essv6221623 | 7 | SAMN00006522 | SNP array | Probe signal intensity | Pass |
| essv6501194 | 7 | SAMN00006565 | SNP array | Probe signal intensity | Pass |
| essv6427381 | 7 | SAMN00006589 | SNP array | Probe signal intensity | Pass |
| essv5452613 | 7 | SAMN00006596 | SNP array | Probe signal intensity | Pass |
| essv6473654 | 7 | SAMN00007700 | SNP array | Probe signal intensity | Pass |
| essv5758700 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
| essv5672544 | 7 | SAMN00007807 | SNP array | Probe signal intensity | Pass |
| essv6318684 | 7 | SAMN00007809 | SNP array | Probe signal intensity | Pass |
| essv6224005 | 7 | SAMN00007825 | SNP array | Probe signal intensity | Pass |
| essv5883376 | 7 | SAMN00009184 | SNP array | Probe signal intensity | Pass |
| essv5604166 | 7 | SAMN00014342 | SNP array | Probe signal intensity | Pass |