esv2666505
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:53
- Validation:Yes
- Clinical Assertions: No
- Region Size:13,795
- 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: 745 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 748 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2666505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,730,447 | 195,744,203 |
| esv2666505 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 100,944 | 114,700 |
| esv2666505 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| esv2666505 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| esv2666505 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,635 | 64,429 |
| esv2666505 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 51,829 | 65,597 |
| esv2666505 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 100,944 | 114,700 |
| esv2666505 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 50,533 | 64,252 |
| esv2666505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,457,318 | 195,471,074 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5396100 | deletion | SAMN00004696 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
| essv5400830 | deletion | SAMN00006456 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,686 |
| essv5439895 | deletion | SAMN00006489 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
| essv5516380 | deletion | SAMN00006495 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,043 |
| essv5550317 | deletion | SAMN00006393 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,630 |
| essv5573584 | deletion | SAMN00009195 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,350 |
| essv5611417 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
| essv5660517 | deletion | SAMN00006459 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,568 |
| essv5694952 | deletion | SAMN00006346 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
| essv5711508 | deletion | SAMN00009240 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv5746338 | deletion | SAMN00006516 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
| essv5763259 | deletion | SAMN00009163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv5775413 | deletion | SAMN00006453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,472 |
| essv5794173 | deletion | SAMN00006385 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
| essv5794549 | deletion | SAMN00006465 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,713 |
| essv5811266 | deletion | SAMN00006529 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,277 |
| essv5828686 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
| essv5841592 | deletion | SAMN00000514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,014 |
| essv5848535 | deletion | SAMN00000450 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 976 |
| essv5850784 | deletion | SAMN00006441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,777 |
| essv5877059 | deletion | SAMN00006460 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,601 |
| essv5877589 | deletion | SAMN00006526 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,211 |
| essv5891972 | deletion | SAMN00004690 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,700 |
| essv5979512 | deletion | SAMN00009095 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv6079707 | deletion | SAMN00006454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
| essv6080163 | deletion | SAMN00000925 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,217 |
| essv6106658 | deletion | SAMN00004655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv6119491 | deletion | SAMN00001238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 882 |
| essv6149265 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
| essv6166029 | deletion | SAMN00006444 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,678 |
| essv6177376 | deletion | SAMN00006502 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,731 |
| essv6179819 | deletion | SAMN00007752 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
| essv6192887 | deletion | SAMN00006401 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,672 |
| essv6202644 | deletion | SAMN00006344 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,026 |
| essv6212096 | deletion | SAMN00009111 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,567 |
| essv6242182 | deletion | SAMN00006466 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,824 |
| essv6266947 | deletion | SAMN00006475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,638 |
| essv6275375 | deletion | SAMN00000433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,612 |
| essv6276325 | deletion | SAMN00009125 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
| essv6317762 | deletion | SAMN00001128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,720 |
| essv6352963 | deletion | SAMN00006550 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,705 |
| essv6357497 | deletion | SAMN00009122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,848 |
| essv6359037 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
| essv6374347 | deletion | SAMN00009126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,897 |
| essv6403802 | deletion | SAMN00007713 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 994 |
| essv6426901 | deletion | SAMN00016976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,192 |
| essv6463870 | deletion | SAMN00801422 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,289 |
| essv6489595 | deletion | SAMN00007746 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,178 |
| essv6511937 | deletion | SAMN00000419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,634 |
| essv6536649 | deletion | SAMN00004661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,025 |
| essv6543698 | deletion | SAMN00006442 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,722 |
| essv6545790 | deletion | SAMN00009120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv6554231 | deletion | SAMN00006423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,641 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5396100 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5400830 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5439895 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5516380 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5550317 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5573584 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5611417 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5660517 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5694952 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5711508 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5746338 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5763259 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5775413 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5794173 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5794549 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5811266 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5828686 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5841592 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5848535 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5850784 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5877059 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5877589 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5891972 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5979512 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6079707 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6080163 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6106658 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6119491 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6149265 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6166029 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6177376 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6179819 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6192887 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6202644 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6212096 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6242182 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6266947 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6275375 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6276325 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6317762 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6352963 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6357497 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6359037 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6374347 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6403802 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6426901 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6463870 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6489595 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6511937 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6536649 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6543698 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6545790 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv6554231 | Remapped | Good | NT_187690.1:g.5052 8_64259delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,528 | 64,259 |
| essv5396100 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5400830 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5439895 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5516380 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5550317 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5573584 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5611417 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5660517 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5694952 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5711508 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5746338 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5763259 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5775413 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5794173 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5794549 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5811266 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5828686 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5841592 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5848535 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5850784 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5877059 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5877589 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5891972 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv5979512 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6079707 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6080163 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6106658 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6119491 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6149265 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6166029 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6177376 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6179819 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6192887 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6202644 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6212096 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6242182 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6266947 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6275375 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6276325 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6317762 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6352963 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6357497 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6359037 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6374347 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6403802 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6426901 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
| essv6463870 | Remapped | Good | NT_187688.1:g.5052 9_64252delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,529 | 64,252 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6511937 | 9 | SAMN00000419 | Oligo aCGH | Probe signal intensity | Pass |
| essv6275375 | 9 | SAMN00000433 | Oligo aCGH | Probe signal intensity | Pass |
| essv5848535 | 9 | SAMN00000450 | Oligo aCGH | Probe signal intensity | Pass |
| essv5841592 | 9 | SAMN00000514 | Oligo aCGH | Probe signal intensity | Pass |
| essv6080163 | 9 | SAMN00000925 | Oligo aCGH | Probe signal intensity | Pass |
| essv6317762 | 9 | SAMN00001128 | Oligo aCGH | Probe signal intensity | Pass |
| essv6359037 | 9 | SAMN00001143 | Oligo aCGH | Probe signal intensity | Pass |
| essv6149265 | 9 | SAMN00001165 | Oligo aCGH | Probe signal intensity | Pass |
| essv6119491 | 9 | SAMN00001238 | Oligo aCGH | Probe signal intensity | Pass |
| essv6106658 | 9 | SAMN00004655 | Oligo aCGH | Probe signal intensity | Pass |
| essv6536649 | 9 | SAMN00004661 | Oligo aCGH | Probe signal intensity | Pass |
| essv5828686 | 9 | SAMN00004683 | Oligo aCGH | Probe signal intensity | Pass |
| essv5891972 | 9 | SAMN00004690 | Oligo aCGH | Probe signal intensity | Pass |
| essv5396100 | 9 | SAMN00004696 | Oligo aCGH | Probe signal intensity | Pass |
| essv6202644 | 9 | SAMN00006344 | Oligo aCGH | Probe signal intensity | Pass |
| essv5694952 | 9 | SAMN00006346 | Oligo aCGH | Probe signal intensity | Pass |
| essv5794173 | 9 | SAMN00006385 | Oligo aCGH | Probe signal intensity | Pass |
| essv5550317 | 9 | SAMN00006393 | Oligo aCGH | Probe signal intensity | Pass |
| essv6192887 | 9 | SAMN00006401 | Oligo aCGH | Probe signal intensity | Pass |
| essv6554231 | 9 | SAMN00006423 | Oligo aCGH | Probe signal intensity | Pass |
| essv5850784 | 9 | SAMN00006441 | Oligo aCGH | Probe signal intensity | Pass |
| essv6543698 | 9 | SAMN00006442 | Oligo aCGH | Probe signal intensity | Pass |
| essv6166029 | 9 | SAMN00006444 | Oligo aCGH | Probe signal intensity | Pass |
| essv5775413 | 9 | SAMN00006453 | Oligo aCGH | Probe signal intensity | Pass |
| essv6079707 | 9 | SAMN00006454 | Oligo aCGH | Probe signal intensity | Pass |
| essv5400830 | 9 | SAMN00006456 | Oligo aCGH | Probe signal intensity | Pass |
| essv5660517 | 9 | SAMN00006459 | Oligo aCGH | Probe signal intensity | Pass |
| essv5877059 | 9 | SAMN00006460 | Oligo aCGH | Probe signal intensity | Pass |
| essv5794549 | 9 | SAMN00006465 | Oligo aCGH | Probe signal intensity | Pass |
| essv6242182 | 9 | SAMN00006466 | Oligo aCGH | Probe signal intensity | Pass |
| essv6266947 | 9 | SAMN00006475 | Oligo aCGH | Probe signal intensity | Pass |
| essv5439895 | 9 | SAMN00006489 | Oligo aCGH | Probe signal intensity | Pass |
| essv5516380 | 9 | SAMN00006495 | Oligo aCGH | Probe signal intensity | Pass |
| essv6177376 | 9 | SAMN00006502 | Oligo aCGH | Probe signal intensity | Pass |
| essv5746338 | 9 | SAMN00006516 | Oligo aCGH | Probe signal intensity | Pass |
| essv5877589 | 9 | SAMN00006526 | Oligo aCGH | Probe signal intensity | Pass |
| essv5811266 | 9 | SAMN00006529 | Oligo aCGH | Probe signal intensity | Pass |
| essv6352963 | 9 | SAMN00006550 | Oligo aCGH | Probe signal intensity | Pass |
| essv6403802 | 9 | SAMN00007713 | Oligo aCGH | Probe signal intensity | Pass |
| essv6489595 | 9 | SAMN00007746 | Oligo aCGH | Probe signal intensity | Pass |
| essv6179819 | 9 | SAMN00007752 | Oligo aCGH | Probe signal intensity | Pass |
| essv5979512 | 9 | SAMN00009095 | Oligo aCGH | Probe signal intensity | Pass |
| essv6212096 | 9 | SAMN00009111 | Oligo aCGH | Probe signal intensity | Pass |
| essv6545790 | 9 | SAMN00009120 | Oligo aCGH | Probe signal intensity | Pass |
| essv6357497 | 9 | SAMN00009122 | Oligo aCGH | Probe signal intensity | Pass |
| essv6276325 | 9 | SAMN00009125 | Oligo aCGH | Probe signal intensity | Pass |
| essv6374347 | 9 | SAMN00009126 | Oligo aCGH | Probe signal intensity | Pass |
| essv5611417 | 9 | SAMN00009145 | Oligo aCGH | Probe signal intensity | Pass |
| essv5763259 | 9 | SAMN00009163 | Oligo aCGH | Probe signal intensity | Pass |
| essv5573584 | 9 | SAMN00009195 | Oligo aCGH | Probe signal intensity | Pass |
| essv5711508 | 9 | SAMN00009240 | Oligo aCGH | Probe signal intensity | Pass |
| essv6426901 | 9 | SAMN00016976 | Oligo aCGH | Probe signal intensity | Pass |
| essv6463870 | 9 | SAMN00801422 | Oligo aCGH | Probe signal intensity | Pass |
| essv6511937 | 7 | SAMN00000419 | SNP array | Probe signal intensity | Pass |
| essv6275375 | 7 | SAMN00000433 | SNP array | Probe signal intensity | Pass |
| essv5848535 | 7 | SAMN00000450 | SNP array | Probe signal intensity | Pass |
| essv5841592 | 7 | SAMN00000514 | SNP array | Probe signal intensity | Pass |
| essv6080163 | 7 | SAMN00000925 | SNP array | Probe signal intensity | Pass |
| essv6317762 | 7 | SAMN00001128 | SNP array | Probe signal intensity | Pass |
| essv6359037 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv6149265 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
| essv6119491 | 7 | SAMN00001238 | SNP array | Probe signal intensity | Pass |
| essv6106658 | 7 | SAMN00004655 | SNP array | Probe signal intensity | Pass |
| essv6536649 | 7 | SAMN00004661 | SNP array | Probe signal intensity | Pass |
| essv5828686 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
| essv5891972 | 7 | SAMN00004690 | SNP array | Probe signal intensity | Pass |
| essv5396100 | 7 | SAMN00004696 | SNP array | Probe signal intensity | Pass |
| essv6202644 | 7 | SAMN00006344 | SNP array | Probe signal intensity | Pass |
| essv5694952 | 7 | SAMN00006346 | SNP array | Probe signal intensity | Pass |
| essv5794173 | 7 | SAMN00006385 | SNP array | Probe signal intensity | Pass |
| essv5550317 | 7 | SAMN00006393 | SNP array | Probe signal intensity | Pass |
| essv6192887 | 7 | SAMN00006401 | SNP array | Probe signal intensity | Pass |
| essv6554231 | 7 | SAMN00006423 | SNP array | Probe signal intensity | Pass |
| essv5850784 | 7 | SAMN00006441 | SNP array | Probe signal intensity | Pass |
| essv6543698 | 7 | SAMN00006442 | SNP array | Probe signal intensity | Pass |
| essv6166029 | 7 | SAMN00006444 | SNP array | Probe signal intensity | Pass |
| essv5775413 | 7 | SAMN00006453 | SNP array | Probe signal intensity | Pass |
| essv6079707 | 7 | SAMN00006454 | SNP array | Probe signal intensity | Pass |
| essv5400830 | 7 | SAMN00006456 | SNP array | Probe signal intensity | Pass |
| essv5660517 | 7 | SAMN00006459 | SNP array | Probe signal intensity | Pass |
| essv5877059 | 7 | SAMN00006460 | SNP array | Probe signal intensity | Pass |
| essv5794549 | 7 | SAMN00006465 | SNP array | Probe signal intensity | Pass |
| essv6242182 | 7 | SAMN00006466 | SNP array | Probe signal intensity | Pass |
| essv6266947 | 7 | SAMN00006475 | SNP array | Probe signal intensity | Pass |
| essv5439895 | 7 | SAMN00006489 | SNP array | Probe signal intensity | Pass |
| essv5516380 | 7 | SAMN00006495 | SNP array | Probe signal intensity | Pass |
| essv6177376 | 7 | SAMN00006502 | SNP array | Probe signal intensity | Pass |
| essv5746338 | 7 | SAMN00006516 | SNP array | Probe signal intensity | Pass |
| essv5877589 | 7 | SAMN00006526 | SNP array | Probe signal intensity | Pass |
| essv5811266 | 7 | SAMN00006529 | SNP array | Probe signal intensity | Pass |
| essv6352963 | 7 | SAMN00006550 | SNP array | Probe signal intensity | Pass |
| essv6403802 | 7 | SAMN00007713 | SNP array | Probe signal intensity | Pass |
| essv6489595 | 7 | SAMN00007746 | SNP array | Probe signal intensity | Pass |
| essv6179819 | 7 | SAMN00007752 | SNP array | Probe signal intensity | Pass |
| essv5979512 | 7 | SAMN00009095 | SNP array | Probe signal intensity | Pass |
| essv6212096 | 7 | SAMN00009111 | SNP array | Probe signal intensity | Pass |
| essv6545790 | 7 | SAMN00009120 | SNP array | Probe signal intensity | Pass |
| essv6357497 | 7 | SAMN00009122 | SNP array | Probe signal intensity | Pass |
| essv6276325 | 7 | SAMN00009125 | SNP array | Probe signal intensity | Pass |
| essv6374347 | 7 | SAMN00009126 | SNP array | Probe signal intensity | Pass |
| essv5611417 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv5763259 | 7 | SAMN00009163 | SNP array | Probe signal intensity | Pass |
| essv5573584 | 7 | SAMN00009195 | SNP array | Probe signal intensity | Pass |
| essv5711508 | 7 | SAMN00009240 | SNP array | Probe signal intensity | Pass |
| essv6426901 | 7 | SAMN00016976 | SNP array | Probe signal intensity | Pass |
| essv6463870 | 7 | SAMN00801422 | SNP array | Probe signal intensity | Pass |