esv2670832
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:47
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2670832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,730,377 | 195,744,133 |
| esv2670832 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 100,874 | 114,630 |
| esv2670832 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| esv2670832 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| esv2670832 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| esv2670832 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 51,899 | 65,667 |
| esv2670832 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 100,874 | 114,630 |
| esv2670832 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 50,603 | 64,322 |
| esv2670832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,457,248 | 195,471,004 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5416538 | deletion | SAMN00006579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,224 |
| essv5445119 | deletion | SAMN00006351 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,048 |
| essv5511911 | deletion | SAMN00014326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,595 |
| essv5549240 | deletion | SAMN00006535 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv5564499 | deletion | SAMN00000429 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,527 |
| essv5578769 | deletion | SAMN00009095 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv5595866 | deletion | SAMN00006417 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 979 |
| essv5631388 | deletion | SAMN00009253 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,267 |
| essv5702359 | deletion | SAMN00009149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 452 |
| essv5725728 | deletion | SAMN00006573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,689 |
| essv5751264 | deletion | SAMN00007704 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
| essv5785421 | deletion | SAMN00009153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,539 |
| essv5795706 | deletion | SAMN00006547 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5837151 | deletion | SAMN00007725 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,143 |
| essv5847068 | deletion | SAMN00014315 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,620 |
| essv5849098 | deletion | SAMN00006505 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,623 |
| essv5882440 | deletion | SAMN00006571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,708 |
| essv5890499 | deletion | SAMN00006583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,292 |
| essv5911171 | deletion | SAMN00009160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,450 |
| essv5928595 | deletion | SAMN00006550 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,705 |
| essv5946980 | deletion | SAMN00014320 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,333 |
| essv5951524 | deletion | SAMN00001150 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
| essv5957694 | deletion | SAMN00007783 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 817 |
| essv6008742 | deletion | SAMN00007847 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 823 |
| essv6016578 | deletion | SAMN00009163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv6018145 | deletion | SAMN00009126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,897 |
| essv6047448 | deletion | SAMN00006553 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,677 |
| essv6071046 | deletion | SAMN00000926 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,337 |
| essv6079177 | deletion | SAMN00006495 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,043 |
| essv6114081 | deletion | SAMN00006538 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv6137779 | deletion | SAMN00004670 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
| essv6190609 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
| essv6197520 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
| essv6220955 | deletion | SAMN00006378 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 972 |
| essv6221077 | deletion | SAMN00016979 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 937 |
| essv6243276 | deletion | SAMN00000521 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
| essv6313712 | deletion | SAMN00014341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv6316494 | deletion | SAMN00006522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,660 |
| essv6372971 | deletion | SAMN00006559 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv6430641 | deletion | SAMN00009240 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv6440904 | deletion | SAMN00006568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,726 |
| essv6492434 | deletion | SAMN00004624 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 252 |
| essv6496913 | deletion | SAMN00006562 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv6535492 | deletion | SAMN00006565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,730 |
| essv6545057 | deletion | SAMN00014321 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 793 |
| essv6548900 | deletion | SAMN00007843 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 841 |
| essv6567192 | deletion | SAMN00007794 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 823 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5416538 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5445119 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5511911 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5549240 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5564499 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5578769 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5595866 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5631388 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5702359 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5725728 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5751264 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5785421 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5795706 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5837151 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5847068 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5849098 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5882440 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5890499 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5911171 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5928595 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5946980 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5951524 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5957694 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6008742 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6016578 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6018145 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6047448 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6071046 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6079177 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6114081 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6137779 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6190609 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6197520 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6220955 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6221077 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6243276 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6313712 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6316494 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6372971 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6430641 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6440904 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6492434 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6496913 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6535492 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6545057 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6548900 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv6567192 | Remapped | Good | NT_187690.1:g.5059 8_64329delG | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 50,598 | 64,329 |
| essv5416538 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5445119 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5511911 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5549240 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5564499 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5578769 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5595866 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5631388 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5702359 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5725728 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5751264 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5785421 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5795706 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5837151 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5847068 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5849098 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5882440 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5890499 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5911171 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5928595 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5946980 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5951524 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5957694 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6008742 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6016578 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6018145 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6047448 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6071046 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6079177 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6114081 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6137779 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6190609 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6197520 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6220955 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6221077 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6243276 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6313712 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6316494 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6372971 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6430641 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6440904 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6492434 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6496913 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6535492 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6545057 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6548900 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv6567192 | Remapped | Good | NT_187688.1:g.5059 9_64322delG | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 50,599 | 64,322 |
| essv5416538 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| essv5445119 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| essv5511911 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| essv5549240 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| essv5564499 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
| essv5578769 | Remapped | Good | NT_187691.1:g.5070 5_64499delG | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 50,705 | 64,499 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5564499 | 9 | SAMN00000429 | Oligo aCGH | Probe signal intensity | Pass |
| essv6243276 | 9 | SAMN00000521 | Oligo aCGH | Probe signal intensity | Pass |
| essv6071046 | 9 | SAMN00000926 | Oligo aCGH | Probe signal intensity | Pass |
| essv5951524 | 9 | SAMN00001150 | Oligo aCGH | Probe signal intensity | Pass |
| essv6492434 | 9 | SAMN00004624 | Oligo aCGH | Probe signal intensity | Pass |
| essv6137779 | 9 | SAMN00004670 | Oligo aCGH | Probe signal intensity | Pass |
| essv5445119 | 9 | SAMN00006351 | Oligo aCGH | Probe signal intensity | Pass |
| essv6220955 | 9 | SAMN00006378 | Oligo aCGH | Probe signal intensity | Pass |
| essv5595866 | 9 | SAMN00006417 | Oligo aCGH | Probe signal intensity | Pass |
| essv6079177 | 9 | SAMN00006495 | Oligo aCGH | Probe signal intensity | Pass |
| essv5849098 | 9 | SAMN00006505 | Oligo aCGH | Probe signal intensity | Pass |
| essv6316494 | 9 | SAMN00006522 | Oligo aCGH | Probe signal intensity | Pass |
| essv5549240 | 9 | SAMN00006535 | Oligo aCGH | Probe signal intensity | Pass |
| essv6114081 | 9 | SAMN00006538 | Oligo aCGH | Probe signal intensity | Pass |
| essv5795706 | 9 | SAMN00006547 | Oligo aCGH | Probe signal intensity | Pass |
| essv5928595 | 9 | SAMN00006550 | Oligo aCGH | Probe signal intensity | Pass |
| essv6047448 | 9 | SAMN00006553 | Oligo aCGH | Probe signal intensity | Pass |
| essv6372971 | 9 | SAMN00006559 | Oligo aCGH | Probe signal intensity | Pass |
| essv6190609 | 9 | SAMN00006561 | Oligo aCGH | Probe signal intensity | Pass |
| essv6496913 | 9 | SAMN00006562 | Oligo aCGH | Probe signal intensity | Pass |
| essv6535492 | 9 | SAMN00006565 | Oligo aCGH | Probe signal intensity | Pass |
| essv6440904 | 9 | SAMN00006568 | Oligo aCGH | Probe signal intensity | Pass |
| essv5882440 | 9 | SAMN00006571 | Oligo aCGH | Probe signal intensity | Pass |
| essv5725728 | 9 | SAMN00006573 | Oligo aCGH | Probe signal intensity | Pass |
| essv5416538 | 9 | SAMN00006579 | Oligo aCGH | Probe signal intensity | Pass |
| essv5890499 | 9 | SAMN00006583 | Oligo aCGH | Probe signal intensity | Pass |
| essv5751264 | 9 | SAMN00007704 | Oligo aCGH | Probe signal intensity | Pass |
| essv5837151 | 9 | SAMN00007725 | Oligo aCGH | Probe signal intensity | Pass |
| essv5957694 | 9 | SAMN00007783 | Oligo aCGH | Probe signal intensity | Pass |
| essv6567192 | 9 | SAMN00007794 | Oligo aCGH | Probe signal intensity | Pass |
| essv6548900 | 9 | SAMN00007843 | Oligo aCGH | Probe signal intensity | Pass |
| essv6008742 | 9 | SAMN00007847 | Oligo aCGH | Probe signal intensity | Pass |
| essv5578769 | 9 | SAMN00009095 | Oligo aCGH | Probe signal intensity | Pass |
| essv6018145 | 9 | SAMN00009126 | Oligo aCGH | Probe signal intensity | Pass |
| essv6197520 | 9 | SAMN00009145 | Oligo aCGH | Probe signal intensity | Pass |
| essv5702359 | 9 | SAMN00009149 | Oligo aCGH | Probe signal intensity | Pass |
| essv5785421 | 9 | SAMN00009153 | Oligo aCGH | Probe signal intensity | Pass |
| essv5911171 | 9 | SAMN00009160 | Oligo aCGH | Probe signal intensity | Pass |
| essv6016578 | 9 | SAMN00009163 | Oligo aCGH | Probe signal intensity | Pass |
| essv6430641 | 9 | SAMN00009240 | Oligo aCGH | Probe signal intensity | Pass |
| essv5631388 | 9 | SAMN00009253 | Oligo aCGH | Probe signal intensity | Pass |
| essv5847068 | 9 | SAMN00014315 | Oligo aCGH | Probe signal intensity | Pass |
| essv5946980 | 9 | SAMN00014320 | Oligo aCGH | Probe signal intensity | Pass |
| essv6545057 | 9 | SAMN00014321 | Oligo aCGH | Probe signal intensity | Pass |
| essv5511911 | 9 | SAMN00014326 | Oligo aCGH | Probe signal intensity | Pass |
| essv6313712 | 9 | SAMN00014341 | Oligo aCGH | Probe signal intensity | Pass |
| essv6221077 | 9 | SAMN00016979 | Oligo aCGH | Probe signal intensity | Pass |
| essv5564499 | 8 | SAMN00000429 | PCR | Other | Pass |
| essv6243276 | 8 | SAMN00000521 | PCR | Other | Pass |
| essv6071046 | 8 | SAMN00000926 | PCR | Other | Pass |
| essv5951524 | 8 | SAMN00001150 | PCR | Other | Pass |
| essv6492434 | 8 | SAMN00004624 | PCR | Other | Pass |
| essv6137779 | 8 | SAMN00004670 | PCR | Other | Pass |
| essv5445119 | 8 | SAMN00006351 | PCR | Other | Pass |
| essv6220955 | 8 | SAMN00006378 | PCR | Other | Pass |
| essv5595866 | 8 | SAMN00006417 | PCR | Other | Pass |
| essv6079177 | 8 | SAMN00006495 | PCR | Other | Pass |
| essv5849098 | 8 | SAMN00006505 | PCR | Other | Pass |
| essv6316494 | 8 | SAMN00006522 | PCR | Other | Pass |
| essv5549240 | 8 | SAMN00006535 | PCR | Other | Pass |
| essv6114081 | 8 | SAMN00006538 | PCR | Other | Pass |
| essv5795706 | 8 | SAMN00006547 | PCR | Other | Pass |
| essv5928595 | 8 | SAMN00006550 | PCR | Other | Pass |
| essv6047448 | 8 | SAMN00006553 | PCR | Other | Pass |
| essv6372971 | 8 | SAMN00006559 | PCR | Other | Pass |
| essv6190609 | 8 | SAMN00006561 | PCR | Other | Pass |
| essv6496913 | 8 | SAMN00006562 | PCR | Other | Pass |
| essv6535492 | 8 | SAMN00006565 | PCR | Other | Pass |
| essv6440904 | 8 | SAMN00006568 | PCR | Other | Pass |
| essv5882440 | 8 | SAMN00006571 | PCR | Other | Pass |
| essv5725728 | 8 | SAMN00006573 | PCR | Other | Pass |
| essv5416538 | 8 | SAMN00006579 | PCR | Other | Pass |
| essv5890499 | 8 | SAMN00006583 | PCR | Other | Pass |
| essv5751264 | 8 | SAMN00007704 | PCR | Other | Pass |
| essv5837151 | 8 | SAMN00007725 | PCR | Other | Pass |
| essv5957694 | 8 | SAMN00007783 | PCR | Other | Pass |
| essv6567192 | 8 | SAMN00007794 | PCR | Other | Pass |
| essv6548900 | 8 | SAMN00007843 | PCR | Other | Pass |
| essv6008742 | 8 | SAMN00007847 | PCR | Other | Pass |
| essv5578769 | 8 | SAMN00009095 | PCR | Other | Pass |
| essv6018145 | 8 | SAMN00009126 | PCR | Other | Pass |
| essv6197520 | 8 | SAMN00009145 | PCR | Other | Pass |
| essv5702359 | 8 | SAMN00009149 | PCR | Other | Pass |
| essv5785421 | 8 | SAMN00009153 | PCR | Other | Pass |
| essv5911171 | 8 | SAMN00009160 | PCR | Other | Pass |
| essv6016578 | 8 | SAMN00009163 | PCR | Other | Pass |
| essv6430641 | 8 | SAMN00009240 | PCR | Other | Pass |
| essv5631388 | 8 | SAMN00009253 | PCR | Other | Pass |
| essv5847068 | 8 | SAMN00014315 | PCR | Other | Pass |
| essv5946980 | 8 | SAMN00014320 | PCR | Other | Pass |
| essv6545057 | 8 | SAMN00014321 | PCR | Other | Pass |
| essv5511911 | 8 | SAMN00014326 | PCR | Other | Pass |
| essv6313712 | 8 | SAMN00014341 | PCR | Other | Pass |
| essv6221077 | 8 | SAMN00016979 | PCR | Other | Pass |
| essv5564499 | 7 | SAMN00000429 | SNP array | Probe signal intensity | Pass |
| essv6243276 | 7 | SAMN00000521 | SNP array | Probe signal intensity | Pass |
| essv6071046 | 7 | SAMN00000926 | SNP array | Probe signal intensity | Pass |
| essv5951524 | 7 | SAMN00001150 | SNP array | Probe signal intensity | Pass |
| essv6492434 | 7 | SAMN00004624 | SNP array | Probe signal intensity | Pass |
| essv6137779 | 7 | SAMN00004670 | SNP array | Probe signal intensity | Pass |
| essv5445119 | 7 | SAMN00006351 | SNP array | Probe signal intensity | Pass |
| essv6220955 | 7 | SAMN00006378 | SNP array | Probe signal intensity | Pass |
| essv5595866 | 7 | SAMN00006417 | SNP array | Probe signal intensity | Pass |
| essv6079177 | 7 | SAMN00006495 | SNP array | Probe signal intensity | Pass |
| essv5849098 | 7 | SAMN00006505 | SNP array | Probe signal intensity | Pass |
| essv6316494 | 7 | SAMN00006522 | SNP array | Probe signal intensity | Pass |
| essv5549240 | 7 | SAMN00006535 | SNP array | Probe signal intensity | Pass |
| essv6114081 | 7 | SAMN00006538 | SNP array | Probe signal intensity | Pass |
| essv5795706 | 7 | SAMN00006547 | SNP array | Probe signal intensity | Pass |
| essv5928595 | 7 | SAMN00006550 | SNP array | Probe signal intensity | Pass |
| essv6047448 | 7 | SAMN00006553 | SNP array | Probe signal intensity | Pass |
| essv6372971 | 7 | SAMN00006559 | SNP array | Probe signal intensity | Pass |
| essv6190609 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |
| essv6496913 | 7 | SAMN00006562 | SNP array | Probe signal intensity | Pass |
| essv6535492 | 7 | SAMN00006565 | SNP array | Probe signal intensity | Pass |
| essv6440904 | 7 | SAMN00006568 | SNP array | Probe signal intensity | Pass |
| essv5882440 | 7 | SAMN00006571 | SNP array | Probe signal intensity | Pass |
| essv5725728 | 7 | SAMN00006573 | SNP array | Probe signal intensity | Pass |
| essv5416538 | 7 | SAMN00006579 | SNP array | Probe signal intensity | Pass |
| essv5890499 | 7 | SAMN00006583 | SNP array | Probe signal intensity | Pass |
| essv5751264 | 7 | SAMN00007704 | SNP array | Probe signal intensity | Pass |
| essv5837151 | 7 | SAMN00007725 | SNP array | Probe signal intensity | Pass |
| essv5957694 | 7 | SAMN00007783 | SNP array | Probe signal intensity | Pass |
| essv6567192 | 7 | SAMN00007794 | SNP array | Probe signal intensity | Pass |
| essv6548900 | 7 | SAMN00007843 | SNP array | Probe signal intensity | Pass |
| essv6008742 | 7 | SAMN00007847 | SNP array | Probe signal intensity | Pass |
| essv5578769 | 7 | SAMN00009095 | SNP array | Probe signal intensity | Pass |
| essv6018145 | 7 | SAMN00009126 | SNP array | Probe signal intensity | Pass |
| essv6197520 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv5702359 | 7 | SAMN00009149 | SNP array | Probe signal intensity | Pass |
| essv5785421 | 7 | SAMN00009153 | SNP array | Probe signal intensity | Pass |
| essv5911171 | 7 | SAMN00009160 | SNP array | Probe signal intensity | Pass |
| essv6016578 | 7 | SAMN00009163 | SNP array | Probe signal intensity | Pass |
| essv6430641 | 7 | SAMN00009240 | SNP array | Probe signal intensity | Pass |
| essv5631388 | 7 | SAMN00009253 | SNP array | Probe signal intensity | Pass |
| essv5847068 | 7 | SAMN00014315 | SNP array | Probe signal intensity | Pass |
| essv5946980 | 7 | SAMN00014320 | SNP array | Probe signal intensity | Pass |
| essv6545057 | 7 | SAMN00014321 | SNP array | Probe signal intensity | Pass |
| essv5511911 | 7 | SAMN00014326 | SNP array | Probe signal intensity | Pass |
| essv6313712 | 7 | SAMN00014341 | SNP array | Probe signal intensity | Pass |
| essv6221077 | 7 | SAMN00016979 | SNP array | Probe signal intensity | Pass |