esv14550
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,766
- 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: 269 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv14550 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,028,003 |
| esv14550 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,516 |
| esv14550 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 122,759,741 | 122,777,506 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv38648 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
| essv55377 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
| essv71417 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
| essv76764 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv43024 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv59214 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv38648 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121027 906_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,027,906 |
| essv55377 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121027 906_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,027,906 |
| essv71417 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121027 906_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,027,906 |
| essv76764 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121027 906_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,027,906 |
| essv43024 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121028 003_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,028,003 |
| essv59214 | Remapped | Perfect | NC_000010.11:g.(?_ 121010238)_(121028 003_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,238 | 121,028,003 |
| essv38648 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 419_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,419 |
| essv55377 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 419_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,419 |
| essv71417 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 419_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,419 |
| essv76764 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 419_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,419 |
| essv43024 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 516_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,516 |
| essv59214 | Remapped | Perfect | NC_000010.10:g.(?_ 122769751)_(122787 516_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 122,769,751 | 122,787,516 |
| essv38648 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227774 09_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,409 | ||
| essv55377 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227774 09_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,409 | ||
| essv71417 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227774 09_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,409 | ||
| essv76764 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227774 09_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,409 | ||
| essv43024 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227775 06_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,506 | ||
| essv59214 | Submitted genomic | NC_000010.9:g.(?_1 22759741)_(1227775 06_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,759,741 | 122,777,506 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv76764 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv43024 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv71417 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
| essv55377 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv59214 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
| essv38648 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |