esv18524
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,367
- 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: 459 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv18524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 156,049,646 | 156,068,012 |
| esv18524 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 155,476,656 | 155,495,022 |
| esv18524 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 155,409,234 | 155,427,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv35080 | copy number loss | NA18502 | Oligo aCGH | Probe signal intensity | 1,373 |
| essv56704 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv49974 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
| essv67403 | copy number loss | NA12828 | Oligo aCGH | Probe signal intensity | 1,072 |
| essv62899 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv68165 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv39786 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv35080 | Remapped | Perfect | NC_000005.10:g.(?_ 156049646)_(156061 890_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,646 | 156,061,890 |
| essv56704 | Remapped | Perfect | NC_000005.10:g.(?_ 156049646)_(156061 890_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,646 | 156,061,890 |
| essv49974 | Remapped | Perfect | NC_000005.10:g.(?_ 156049657)_(156061 890_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,657 | 156,061,890 |
| essv67403 | Remapped | Perfect | NC_000005.10:g.(?_ 156049657)_(156068 012_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,657 | 156,068,012 |
| essv62899 | Remapped | Perfect | NC_000005.10:g.(?_ 156049764)_(156061 890_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,764 | 156,061,890 |
| essv68165 | Remapped | Perfect | NC_000005.10:g.(?_ 156050412)_(156061 890_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,050,412 | 156,061,890 |
| essv39786 | Remapped | Perfect | NC_000005.10:g.(?_ 156050782)_(156068 012_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,050,782 | 156,068,012 |
| essv35080 | Remapped | Perfect | NC_000005.9:g.(?_1 55476656)_(1554889 00_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,656 | 155,488,900 |
| essv56704 | Remapped | Perfect | NC_000005.9:g.(?_1 55476656)_(1554889 00_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,656 | 155,488,900 |
| essv49974 | Remapped | Perfect | NC_000005.9:g.(?_1 55476667)_(1554889 00_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,667 | 155,488,900 |
| essv67403 | Remapped | Perfect | NC_000005.9:g.(?_1 55476667)_(1554950 22_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,667 | 155,495,022 |
| essv62899 | Remapped | Perfect | NC_000005.9:g.(?_1 55476774)_(1554889 00_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,476,774 | 155,488,900 |
| essv68165 | Remapped | Perfect | NC_000005.9:g.(?_1 55477422)_(1554889 00_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,477,422 | 155,488,900 |
| essv39786 | Remapped | Perfect | NC_000005.9:g.(?_1 55477792)_(1554950 22_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,477,792 | 155,495,022 |
| essv35080 | Submitted genomic | NC_000005.8:g.(?_1 55409234)_(1554214 78_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,234 | 155,421,478 | ||
| essv56704 | Submitted genomic | NC_000005.8:g.(?_1 55409234)_(1554214 78_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,234 | 155,421,478 | ||
| essv49974 | Submitted genomic | NC_000005.8:g.(?_1 55409245)_(1554214 78_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,245 | 155,421,478 | ||
| essv67403 | Submitted genomic | NC_000005.8:g.(?_1 55409245)_(1554276 00_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,245 | 155,427,600 | ||
| essv62899 | Submitted genomic | NC_000005.8:g.(?_1 55409352)_(1554214 78_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,409,352 | 155,421,478 | ||
| essv68165 | Submitted genomic | NC_000005.8:g.(?_1 55410000)_(1554214 78_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,410,000 | 155,421,478 | ||
| essv39786 | Submitted genomic | NC_000005.8:g.(?_1 55410370)_(1554276 00_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,410,370 | 155,427,600 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv39786 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv56704 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv67403 | 2 | NA12828 | Oligo aCGH | Probe signal intensity | Pass |
| essv62899 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv35080 | 2 | NA18502 | Oligo aCGH | Probe signal intensity | Pass |
| essv49974 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
| essv68165 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |