esv3978849
- 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:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,101
- 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: 581 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 581 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3978849 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,648 |
| esv3978849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 71,092,451 | 71,202,551 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26034926 | duplication | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,677 |
| essv25896275 | duplication | DGMQ-31230 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,666 |
| essv25945378 | duplication | DGMQ-31030 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,644 |
| essv25986206 | duplication | DGMQ-31508 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,545 |
| essv25970324 | duplication | DGMQ-31123 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,704 |
| essv26012332 | duplication | DGMQ-31129 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,496 |
| essv25938427 | duplication | DGMQ-31029 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,562 |
| essv25993445 | duplication | DGMQ-32182 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,451 |
| essv26040248 | duplication | DGMQ-31516 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,622 |
| essv25944238 | duplication | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,468 |
| essv25965170 | duplication | DGMQ-31617 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,636 |
| essv26019406 | duplication | DGMQ-31470 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,613 |
| essv25904931 | duplication | DGMQ-31237 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,475 |
| essv25953147 | duplication | DGMQ-31639 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,641 |
| essv25973759 | duplication | DGMQ-31416 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,428 |
| essv25975442 | duplication | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,664 |
| essv26003477 | duplication | DGMQ-31444 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,542 |
| essv25959278 | duplication | DGMQ-31177 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,445 |
| essv26005251 | duplication | DGMQ-32167 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,562 |
| essv26015938 | duplication | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,679 |
| essv26021154 | duplication | DGMQ-32302 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,531 |
| essv25926227 | duplication | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,712 |
| essv25940171 | duplication | DGMQ-32293 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,587 |
| essv25991373 | duplication | DGMQ-31449 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,630 |
| essv26000108 | duplication | DGMQ-31125 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,569 |
| essv25966956 | duplication | DGMQ-31556 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,506 |
| essv25958374 | duplication | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,606 |
| essv26029676 | duplication | DGMQ-31274 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,454 |
| essv26033194 | duplication | DGMQ-31717 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,423 |
| essv26034927 | duplication | DGMQ-31606 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,677 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26034926 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71087 998)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,087,998 |
| essv25896275 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 048)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,048 |
| essv25945378 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 398)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,398 |
| essv25986206 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,448 |
| essv25970324 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,548 |
| essv26012332 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,548 |
| essv25938427 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 598)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,598 |
| essv25993445 | Remapped | Perfect | NC_000016.10:g.(71 058548_?)_(?_71168 598)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,548 | 71,168,598 |
| essv26040248 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71167 998)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,167,998 |
| essv25944238 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 148)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,148 |
| essv25965170 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 248)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,248 |
| essv26019406 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 348)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,348 |
| essv25904931 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
| essv25953147 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
| essv25973759 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
| essv25975442 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
| essv26003477 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 448)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,448 |
| essv25959278 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,498 |
| essv26005251 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,498 |
| essv26015938 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,498 |
| essv26021154 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,498 |
| essv25926227 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,548 |
| essv25940171 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,548 |
| essv25991373 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 598)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,598 |
| essv26000108 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 598)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,598 |
| essv25966956 | Remapped | Perfect | NC_000016.10:g.(71 058598_?)_(?_71168 648)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,598 | 71,168,648 |
| essv25958374 | Remapped | Perfect | NC_000016.10:g.(71 058648_?)_(?_71168 498)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,648 | 71,168,498 |
| essv26029676 | Remapped | Perfect | NC_000016.10:g.(71 058648_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,648 | 71,168,548 |
| essv26033194 | Remapped | Perfect | NC_000016.10:g.(71 058648_?)_(?_71168 548)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,058,648 | 71,168,548 |
| essv26034927 | Remapped | Perfect | NC_000016.10:g.(71 089148_?)_(?_71167 998)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,089,148 | 71,167,998 |
| essv26034926 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_711219 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,121,901 | ||
| essv25896275 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712019 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,201,951 | ||
| essv25945378 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712023 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,301 | ||
| essv25986206 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,351 | ||
| essv25970324 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,451 | ||
| essv26012332 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,451 | ||
| essv25938427 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712025 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,501 | ||
| essv25993445 | Submitted genomic | NC_000016.9:g.(710 92451_?)_(?_712025 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,451 | 71,202,501 | ||
| essv26040248 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712019 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,201,901 | ||
| essv25944238 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712020 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,051 | ||
| essv25965170 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712021 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,151 | ||
| essv26019406 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712022 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,251 | ||
| essv25904931 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv25953147 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv25973759 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv25975442 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv26003477 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712023 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,351 | ||
| essv25959278 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,401 | ||
| essv26005251 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,401 | ||
| essv26015938 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,401 | ||
| essv26021154 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,401 | ||
| essv25926227 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,451 | ||
| essv25940171 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,451 | ||
| essv25991373 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712025 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,501 | ||
| essv26000108 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712025 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,501 | ||
| essv25966956 | Submitted genomic | NC_000016.9:g.(710 92501_?)_(?_712025 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,501 | 71,202,551 | ||
| essv25958374 | Submitted genomic | NC_000016.9:g.(710 92551_?)_(?_712024 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,551 | 71,202,401 | ||
| essv26029676 | Submitted genomic | NC_000016.9:g.(710 92551_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,551 | 71,202,451 | ||
| essv26033194 | Submitted genomic | NC_000016.9:g.(710 92551_?)_(?_712024 51)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,092,551 | 71,202,451 | ||
| essv26034927 | Submitted genomic | NC_000016.9:g.(711 23051_?)_(?_712019 01)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,123,051 | 71,201,901 |