esv3981453
- 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:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,050
- 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: 1710 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1710 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3981453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,321,173 |
| esv3981453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,275,901 | 31,288,950 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26022457 | deletion | DGMQ-31724 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,583 |
| essv26034492 | deletion | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,677 |
| essv25901022 | deletion | DGMQ-31607 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,655 |
| essv25999719 | deletion | DGMQ-31125 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,569 |
| essv25939133 | deletion | DGMQ-31029 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,562 |
| essv25935850 | deletion | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,712 |
| essv25973416 | deletion | DGMQ-31416 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,428 |
| essv26040965 | deletion | DGMQ-31516 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,622 |
| essv25969339 | deletion | DGMQ-31705 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,442 |
| essv25907321 | deletion | DGMQ-31005 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,544 |
| essv25953905 | deletion | DGMQ-31639 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,641 |
| essv25967631 | deletion | DGMQ-31556 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,506 |
| essv25999075 | deletion | DGMQ-31568 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,594 |
| essv26016743 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 0 | 1,679 |
| essv26039303 | deletion | DGMQ-31725 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,478 |
| essv25897202 | deletion | DGMQ-31230 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,666 |
| essv25955763 | deletion | DGMQ-31609 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,567 |
| essv25957958 | deletion | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,606 |
| essv25984877 | deletion | DGMQ-31513 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,620 |
| essv26002609 | deletion | DGMQ-32250 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,486 |
| essv26015018 | deletion | DGMQ-31245 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,474 |
| essv26036342 | deletion | DGMQ-32180 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,656 |
| essv25971737 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
| essv25940995 | deletion | DGMQ-32293 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,587 |
| essv25936225 | deletion | DGMQ-32224 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,608 |
| essv25989977 | deletion | DGMQ-32182 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,451 |
| essv26004850 | deletion | DGMQ-32167 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,562 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26022457 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31310 823)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,310,823 |
| essv26034492 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31310 823)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,310,823 |
| essv25901022 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31311 273)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,311,273 |
| essv25999719 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31311 273)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,311,273 |
| essv25939133 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31311 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,311,723 |
| essv25935850 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,320,723 |
| essv25973416 | Remapped | Perfect | NC_000006.12:g.(31 308124_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,124 | 31,320,723 |
| essv26040965 | Remapped | Perfect | NC_000006.12:g.(31 310824_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,824 | 31,320,723 |
| essv25969339 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 273)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,273 |
| essv25907321 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv25953905 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv25967631 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv25999075 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv26016743 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv26039303 | Remapped | Perfect | NC_000006.12:g.(31 311274_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,274 | 31,320,723 |
| essv25897202 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv25955763 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv25957958 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv25984877 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv26002609 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv26015018 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv26036342 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31320 723)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,320,723 |
| essv25971737 | Remapped | Perfect | NC_000006.12:g.(31 311724_?)_(?_31321 173)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,311,724 | 31,321,173 |
| essv25940995 | Remapped | Perfect | NC_000006.12:g.(31 313221_?)_(?_31320 934)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,313,221 | 31,320,934 |
| essv25936225 | Remapped | Perfect | NC_000006.12:g.(31 313905_?)_(?_31316 769)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,313,905 | 31,316,769 |
| essv25989977 | Remapped | Perfect | NC_000006.12:g.(31 313905_?)_(?_31318 800)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,313,905 | 31,318,800 |
| essv26004850 | Remapped | Perfect | NC_000006.12:g.(31 313905_?)_(?_31318 800)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,313,905 | 31,318,800 |
| essv26022457 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31278 600)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,278,600 | ||
| essv26034492 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31278 600)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,278,600 | ||
| essv25901022 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31279 050)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,279,050 | ||
| essv25999719 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31279 050)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,279,050 | ||
| essv25939133 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31279 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,279,500 | ||
| essv25935850 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,288,500 | ||
| essv25973416 | Submitted genomic | NC_000006.11:g.(31 275901_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,275,901 | 31,288,500 | ||
| essv26040965 | Submitted genomic | NC_000006.11:g.(31 278601_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,278,601 | 31,288,500 | ||
| essv25969339 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 050)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,050 | ||
| essv25907321 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv25953905 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv25967631 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv25999075 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv26016743 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv26039303 | Submitted genomic | NC_000006.11:g.(31 279051_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,051 | 31,288,500 | ||
| essv25897202 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv25955763 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv25957958 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv25984877 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv26002609 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv26015018 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv26036342 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 500)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,500 | ||
| essv25971737 | Submitted genomic | NC_000006.11:g.(31 279501_?)_(?_31288 950)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,279,501 | 31,288,950 | ||
| essv25940995 | Submitted genomic | NC_000006.11:g.(31 280998_?)_(?_31288 711)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,280,998 | 31,288,711 | ||
| essv25936225 | Submitted genomic | NC_000006.11:g.(31 281682_?)_(?_31284 546)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,281,682 | 31,284,546 | ||
| essv25989977 | Submitted genomic | NC_000006.11:g.(31 281682_?)_(?_31286 577)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,281,682 | 31,286,577 | ||
| essv26004850 | Submitted genomic | NC_000006.11:g.(31 281682_?)_(?_31286 577)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,281,682 | 31,286,577 |