esv17279
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:65,410
- 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: 594 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 594 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv17279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,178,007 | 111,243,416 |
| esv17279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 110,818,063 | 110,883,472 |
| esv17279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,605,299 | 110,670,708 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv80297 | Remapped | Perfect | NC_000007.14:g.(?_ 111178007)_(111243 416_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,178,007 | 111,243,416 |
| essv80297 | Remapped | Perfect | NC_000007.13:g.(?_ 110818063)_(110883 472_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 110,818,063 | 110,883,472 |
| essv80297 | Submitted genomic | NC_000007.12:g.(?_ 110605299)_(110670 708_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,605,299 | 110,670,708 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv80297 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |