esv3983688
- 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:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,492
- 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: 765 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 778 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3983688 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 63,832,400 | 63,917,891 |
| esv3983688 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 68,428,134 | 68,513,625 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25998026 | deletion | DGMQ-31568 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,594 |
| essv25922750 | deletion | DGMQ-32061 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,712 |
| essv26020870 | deletion | DGMQ-32302 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,531 |
| essv25958051 | deletion | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,606 |
| essv25956544 | deletion | DGMQ-31177 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,445 |
| essv25964862 | deletion | DGMQ-31617 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,636 |
| essv25982328 | deletion | DGMQ-31614 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,654 |
| essv25990867 | deletion | DGMQ-32182 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,451 |
| essv25956358 | deletion | DGMQ-32287 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,502 |
| essv25902962 | deletion | DGMQ-32215 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,575 |
| essv25990878 | deletion | DGMQ-32182 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,451 |
| essv25956359 | deletion | DGMQ-32287 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,502 |
| essv26032944 | deletion | DGMQ-31717 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,423 |
| essv25941728 | deletion | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,468 |
| essv25973502 | deletion | DGMQ-31416 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,428 |
| essv25975101 | deletion | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,664 |
| essv26015637 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,679 |
| essv26022539 | deletion | DGMQ-31724 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,583 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25998026 | Remapped | Perfect | NC_000009.12:g.(63 832400_?)_(?_63885 277)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,832,400 | 63,885,277 |
| essv25922750 | Remapped | Perfect | NC_000009.12:g.(63 832400_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,832,400 | 63,917,891 |
| essv26020870 | Remapped | Perfect | NC_000009.12:g.(63 833441_?)_(?_63885 277)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,833,441 | 63,885,277 |
| essv25958051 | Remapped | Perfect | NC_000009.12:g.(63 835509_?)_(?_63909 273)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,835,509 | 63,909,273 |
| essv25956544 | Remapped | Perfect | NC_000009.12:g.(63 835509_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,835,509 | 63,917,891 |
| essv25964862 | Remapped | Perfect | NC_000009.12:g.(63 835509_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,835,509 | 63,917,891 |
| essv25982328 | Remapped | Perfect | NC_000009.12:g.(63 835509_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,835,509 | 63,917,891 |
| essv25990867 | Remapped | Perfect | NC_000009.12:g.(63 844220_?)_(?_63849 599)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,844,220 | 63,849,599 |
| essv25956358 | Remapped | Perfect | NC_000009.12:g.(63 844227_?)_(?_63849 606)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,844,227 | 63,849,606 |
| essv25902962 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63885 277)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,885,277 |
| essv25990878 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63885 277)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,885,277 |
| essv25956359 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63906 804)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,906,804 |
| essv26032944 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63906 804)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,906,804 |
| essv25941728 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63909 273)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,909,273 |
| essv25973502 | Remapped | Perfect | NC_000009.12:g.(63 857589_?)_(?_63909 273)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,857,589 | 63,909,273 |
| essv25975101 | Remapped | Perfect | NC_000009.12:g.(63 899899_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,899,899 | 63,917,891 |
| essv26015637 | Remapped | Perfect | NC_000009.12:g.(63 899899_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,899,899 | 63,917,891 |
| essv26022539 | Remapped | Perfect | NC_000009.12:g.(63 899899_?)_(?_63917 891)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,899,899 | 63,917,891 |
| essv25998026 | Submitted genomic | NC_000009.11:g.(68 428134_?)_(?_68481 011)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,428,134 | 68,481,011 | ||
| essv25922750 | Submitted genomic | NC_000009.11:g.(68 428134_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,428,134 | 68,513,625 | ||
| essv26020870 | Submitted genomic | NC_000009.11:g.(68 429175_?)_(?_68481 011)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,429,175 | 68,481,011 | ||
| essv25958051 | Submitted genomic | NC_000009.11:g.(68 431243_?)_(?_68505 007)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,431,243 | 68,505,007 | ||
| essv25956544 | Submitted genomic | NC_000009.11:g.(68 431243_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,431,243 | 68,513,625 | ||
| essv25964862 | Submitted genomic | NC_000009.11:g.(68 431243_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,431,243 | 68,513,625 | ||
| essv25982328 | Submitted genomic | NC_000009.11:g.(68 431243_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,431,243 | 68,513,625 | ||
| essv25990867 | Submitted genomic | NC_000009.11:g.(68 439954_?)_(?_68445 333)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,439,954 | 68,445,333 | ||
| essv25956358 | Submitted genomic | NC_000009.11:g.(68 439961_?)_(?_68445 340)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,439,961 | 68,445,340 | ||
| essv25902962 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68481 011)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,481,011 | ||
| essv25990878 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68481 011)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,481,011 | ||
| essv25956359 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68502 538)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,502,538 | ||
| essv26032944 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68502 538)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,502,538 | ||
| essv25941728 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68505 007)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,505,007 | ||
| essv25973502 | Submitted genomic | NC_000009.11:g.(68 453323_?)_(?_68505 007)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,453,323 | 68,505,007 | ||
| essv25975101 | Submitted genomic | NC_000009.11:g.(68 495633_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,495,633 | 68,513,625 | ||
| essv26015637 | Submitted genomic | NC_000009.11:g.(68 495633_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,495,633 | 68,513,625 | ||
| essv26022539 | Submitted genomic | NC_000009.11:g.(68 495633_?)_(?_68513 625)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,495,633 | 68,513,625 |