esv15759
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,354
- Publication(s):Conrad et al. 2009
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: 475 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv15759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 100,730,239 | 100,745,592 |
| esv15759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 100,327,862 | 100,343,215 |
| esv15759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,165,798 | 100,181,151 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv73962 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv39619 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
| essv65692 | copy number loss | NA19240 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv78381 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv62288 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv79096 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv41494 | copy number loss | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv44474 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
| essv47300 | copy number loss | NA18861 | Oligo aCGH | Probe signal intensity | 1,407 |
| essv48388 | copy number loss | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv72271 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv55852 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv76178 | copy number loss | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
| essv77048 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv69493 | copy number loss | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv73962 | Remapped | Perfect | NC_000007.14:g.(?_ 100730239)_(100740 036_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,239 | 100,740,036 |
| essv39619 | Remapped | Perfect | NC_000007.14:g.(?_ 100730239)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,239 | 100,740,263 |
| essv65692 | Remapped | Perfect | NC_000007.14:g.(?_ 100730239)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,239 | 100,740,263 |
| essv78381 | Remapped | Perfect | NC_000007.14:g.(?_ 100730239)_(100745 592_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,239 | 100,745,592 |
| essv62288 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 141_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,141 |
| essv79096 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 141_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,141 |
| essv41494 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,263 |
| essv44474 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,263 |
| essv47300 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,263 |
| essv48388 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,263 |
| essv72271 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100740 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,740,263 |
| essv55852 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100742 953_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,742,953 |
| essv76178 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100745 592_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,745,592 |
| essv77048 | Remapped | Perfect | NC_000007.14:g.(?_ 100730285)_(100745 592_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,285 | 100,745,592 |
| essv69493 | Remapped | Perfect | NC_000007.14:g.(?_ 100730314)_(100740 141_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,730,314 | 100,740,141 |
| essv73962 | Remapped | Perfect | NC_000007.13:g.(?_ 100327862)_(100337 659_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,862 | 100,337,659 |
| essv39619 | Remapped | Perfect | NC_000007.13:g.(?_ 100327862)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,862 | 100,337,886 |
| essv65692 | Remapped | Perfect | NC_000007.13:g.(?_ 100327862)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,862 | 100,337,886 |
| essv78381 | Remapped | Perfect | NC_000007.13:g.(?_ 100327862)_(100343 215_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,862 | 100,343,215 |
| essv62288 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 764_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,764 |
| essv79096 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 764_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,764 |
| essv41494 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,886 |
| essv44474 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,886 |
| essv47300 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,886 |
| essv48388 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,886 |
| essv72271 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100337 886_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,337,886 |
| essv55852 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100340 576_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,340,576 |
| essv76178 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100343 215_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,343,215 |
| essv77048 | Remapped | Perfect | NC_000007.13:g.(?_ 100327908)_(100343 215_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,908 | 100,343,215 |
| essv69493 | Remapped | Perfect | NC_000007.13:g.(?_ 100327937)_(100337 764_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,937 | 100,337,764 |
| essv73962 | Submitted genomic | NC_000007.12:g.(?_ 100165798)_(100175 595_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,798 | 100,175,595 | ||
| essv39619 | Submitted genomic | NC_000007.12:g.(?_ 100165798)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,798 | 100,175,822 | ||
| essv65692 | Submitted genomic | NC_000007.12:g.(?_ 100165798)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,798 | 100,175,822 | ||
| essv78381 | Submitted genomic | NC_000007.12:g.(?_ 100165798)_(100181 151_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,798 | 100,181,151 | ||
| essv62288 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 700_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,700 | ||
| essv79096 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 700_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,700 | ||
| essv41494 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,822 | ||
| essv44474 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,822 | ||
| essv47300 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,822 | ||
| essv48388 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,822 | ||
| essv72271 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100175 822_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,175,822 | ||
| essv55852 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100178 512_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,178,512 | ||
| essv76178 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100181 151_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,181,151 | ||
| essv77048 | Submitted genomic | NC_000007.12:g.(?_ 100165844)_(100181 151_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,844 | 100,181,151 | ||
| essv69493 | Submitted genomic | NC_000007.12:g.(?_ 100165873)_(100175 700_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,165,873 | 100,175,700 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78381 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv48388 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
| essv69493 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv73962 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv39619 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv76178 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
| essv44474 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
| essv79096 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv55852 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv62288 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv41494 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv77048 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv47300 | 2 | NA18861 | Oligo aCGH | Probe signal intensity | Pass |
| essv72271 | 2 | NA19225 | Oligo aCGH | Probe signal intensity | Pass |
| essv65692 | 2 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |