esv20743
- 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:98,284
- 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: 430 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 510 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 259 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv20743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 38,775,684 | 38,873,967 |
| esv20743 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 38,775,681 | 38,873,964 |
| esv20743 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 38,765,681 | 38,863,964 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv69571 | Remapped | Perfect | NC_000009.12:g.(?_ 38775684)_(3887396 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 38,775,684 | 38,873,967 |
| essv69571 | Remapped | Perfect | NC_000009.11:g.(?_ 38775681)_(3887396 4_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 38,775,681 | 38,873,964 |
| essv69571 | Submitted genomic | NC_000009.10:g.(?_ 38765681)_(3886396 4_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 38,765,681 | 38,863,964 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv69571 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |