esv3975559
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:36
- Validation:Not tested
- Clinical Assertions: No
- Region Size:111,942
- Publication(s):Fakhro et al. 2015
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: 599 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 599 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3975559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,447,150 | 142,559,091 |
| esv3975559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 143,528,511 | 143,640,452 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25980345 | duplication | DGMQ-31513 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,620 |
| essv25984830 | duplication | DGMQ-31254 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,558 |
| essv26005612 | duplication | DGMQ-32167 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,562 |
| essv25949696 | duplication | DGMQ-31105 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,808 |
| essv26007453 | duplication | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,702 |
| essv25955277 | duplication | DGMQ-31609 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,567 |
| essv25986568 | duplication | DGMQ-31508 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,545 |
| essv25896714 | duplication | DGMQ-31230 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,666 |
| essv25940552 | duplication | DGMQ-32293 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,587 |
| essv25960414 | duplication | DGMQ-31711 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,479 |
| essv25997055 | duplication | DGMQ-32182 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,451 |
| essv26030060 | duplication | DGMQ-31274 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,454 |
| essv25967316 | duplication | DGMQ-31556 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,506 |
| essv25984831 | duplication | DGMQ-31254 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,558 |
| essv26000518 | duplication | DGMQ-31125 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,569 |
| essv25937053 | duplication | DGMQ-32224 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,608 |
| essv25943987 | duplication | DGMQ-32273 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,592 |
| essv25953569 | duplication | DGMQ-31639 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,641 |
| essv25980356 | duplication | DGMQ-31513 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,620 |
| essv25898388 | duplication | DGMQ-31644 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,419 |
| essv25900055 | duplication | DGMQ-31625 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,558 |
| essv25945809 | duplication | DGMQ-31030 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,644 |
| essv25957023 | duplication | DGMQ-32287 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,502 |
| essv25975873 | duplication | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,664 |
| essv26037134 | duplication | DGMQ-32180 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,656 |
| essv25965604 | duplication | DGMQ-31617 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,636 |
| essv25988361 | duplication | DGMQ-32219 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,608 |
| essv25958781 | duplication | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
| essv25985141 | duplication | DGMQ-31254 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 4 | 1,558 |
| essv26003879 | duplication | DGMQ-31444 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,542 |
| essv26014599 | duplication | DGMQ-31245 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,474 |
| essv25986569 | duplication | DGMQ-31508 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,545 |
| essv25934127 | duplication | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 4 | 1,712 |
| essv25972483 | duplication | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,534 |
| essv26040655 | duplication | DGMQ-31516 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,622 |
| essv25983074 | duplication | DGMQ-31614 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,654 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25980345 | Remapped | Perfect | NC_000008.11:g.(14 2447150_?)_(?_1424 65366)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,447,150 | 142,465,366 |
| essv25984830 | Remapped | Perfect | NC_000008.11:g.(14 2447150_?)_(?_1424 68227)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,447,150 | 142,468,227 |
| essv26005612 | Remapped | Perfect | NC_000008.11:g.(14 2447150_?)_(?_1424 76587)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,447,150 | 142,476,587 |
| essv25949696 | Remapped | Perfect | NC_000008.11:g.(14 2447150_?)_(?_1425 17327)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,447,150 | 142,517,327 |
| essv26007453 | Remapped | Perfect | NC_000008.11:g.(14 2456518_?)_(?_1425 08358)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,456,518 | 142,508,358 |
| essv25955277 | Remapped | Perfect | NC_000008.11:g.(14 2496528_?)_(?_1425 08358)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,496,528 | 142,508,358 |
| essv25986568 | Remapped | Perfect | NC_000008.11:g.(14 2496528_?)_(?_1425 16034)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,496,528 | 142,516,034 |
| essv25896714 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 13742)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,513,742 |
| essv25940552 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 13742)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,513,742 |
| essv25960414 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 13742)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,513,742 |
| essv25997055 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 13742)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,513,742 |
| essv26030060 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 13742)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,513,742 |
| essv25967316 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 16034)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,516,034 |
| essv25984831 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 16034)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,516,034 |
| essv26000518 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 16034)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,516,034 |
| essv25937053 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 17327)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,517,327 |
| essv25943987 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 17327)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,517,327 |
| essv25953569 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 17327)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,517,327 |
| essv25980356 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 17327)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,517,327 |
| essv25898388 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv25900055 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv25945809 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv25957023 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv25975873 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv26037134 | Remapped | Perfect | NC_000008.11:g.(14 2498826_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,498,826 | 142,542,098 |
| essv25965604 | Remapped | Perfect | NC_000008.11:g.(14 2528125_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,528,125 | 142,542,098 |
| essv25988361 | Remapped | Perfect | NC_000008.11:g.(14 2530788_?)_(?_1425 40000)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,530,788 | 142,540,000 |
| essv25958781 | Remapped | Perfect | NC_000008.11:g.(14 2533117_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,533,117 | 142,542,098 |
| essv25985141 | Remapped | Perfect | NC_000008.11:g.(14 2533117_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,533,117 | 142,542,098 |
| essv26003879 | Remapped | Perfect | NC_000008.11:g.(14 2533117_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,533,117 | 142,542,098 |
| essv26014599 | Remapped | Perfect | NC_000008.11:g.(14 2533117_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,533,117 | 142,542,098 |
| essv25986569 | Remapped | Perfect | NC_000008.11:g.(14 2534163_?)_(?_1425 59091)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,534,163 | 142,559,091 |
| essv25934127 | Remapped | Perfect | NC_000008.11:g.(14 2536239_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,536,239 | 142,542,098 |
| essv25972483 | Remapped | Perfect | NC_000008.11:g.(14 2536239_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,536,239 | 142,542,098 |
| essv26040655 | Remapped | Perfect | NC_000008.11:g.(14 2536239_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,536,239 | 142,542,098 |
| essv25983074 | Remapped | Perfect | NC_000008.11:g.(14 2537523_?)_(?_1425 42098)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,537,523 | 142,542,098 |
| essv25980345 | Submitted genomic | NC_000008.10:g.(14 3528511_?)_(?_1435 46727)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,528,511 | 143,546,727 | ||
| essv25984830 | Submitted genomic | NC_000008.10:g.(14 3528511_?)_(?_1435 49588)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,528,511 | 143,549,588 | ||
| essv26005612 | Submitted genomic | NC_000008.10:g.(14 3528511_?)_(?_1435 57948)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,528,511 | 143,557,948 | ||
| essv25949696 | Submitted genomic | NC_000008.10:g.(14 3528511_?)_(?_1435 98688)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,528,511 | 143,598,688 | ||
| essv26007453 | Submitted genomic | NC_000008.10:g.(14 3537879_?)_(?_1435 89719)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,537,879 | 143,589,719 | ||
| essv25955277 | Submitted genomic | NC_000008.10:g.(14 3577889_?)_(?_1435 89719)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,577,889 | 143,589,719 | ||
| essv25986568 | Submitted genomic | NC_000008.10:g.(14 3577889_?)_(?_1435 97395)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,577,889 | 143,597,395 | ||
| essv25896714 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 95103)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,595,103 | ||
| essv25940552 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 95103)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,595,103 | ||
| essv25960414 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 95103)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,595,103 | ||
| essv25997055 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 95103)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,595,103 | ||
| essv26030060 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 95103)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,595,103 | ||
| essv25967316 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 97395)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,597,395 | ||
| essv25984831 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 97395)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,597,395 | ||
| essv26000518 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 97395)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,597,395 | ||
| essv25937053 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 98688)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,598,688 | ||
| essv25943987 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 98688)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,598,688 | ||
| essv25953569 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 98688)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,598,688 | ||
| essv25980356 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1435 98688)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,598,688 | ||
| essv25898388 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv25900055 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv25945809 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv25957023 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv25975873 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv26037134 | Submitted genomic | NC_000008.10:g.(14 3580187_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,580,187 | 143,623,459 | ||
| essv25965604 | Submitted genomic | NC_000008.10:g.(14 3609486_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,609,486 | 143,623,459 | ||
| essv25988361 | Submitted genomic | NC_000008.10:g.(14 3612149_?)_(?_1436 21361)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,612,149 | 143,621,361 | ||
| essv25958781 | Submitted genomic | NC_000008.10:g.(14 3614478_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,614,478 | 143,623,459 | ||
| essv25985141 | Submitted genomic | NC_000008.10:g.(14 3614478_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,614,478 | 143,623,459 | ||
| essv26003879 | Submitted genomic | NC_000008.10:g.(14 3614478_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,614,478 | 143,623,459 | ||
| essv26014599 | Submitted genomic | NC_000008.10:g.(14 3614478_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,614,478 | 143,623,459 | ||
| essv25986569 | Submitted genomic | NC_000008.10:g.(14 3615524_?)_(?_1436 40452)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,615,524 | 143,640,452 | ||
| essv25934127 | Submitted genomic | NC_000008.10:g.(14 3617600_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,617,600 | 143,623,459 | ||
| essv25972483 | Submitted genomic | NC_000008.10:g.(14 3617600_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,617,600 | 143,623,459 | ||
| essv26040655 | Submitted genomic | NC_000008.10:g.(14 3617600_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,617,600 | 143,623,459 | ||
| essv25983074 | Submitted genomic | NC_000008.10:g.(14 3618884_?)_(?_1436 23459)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,618,884 | 143,623,459 |