esv3693382
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,895
- Publication(s):Palta et al. 2015
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: 1448 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1448 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 571 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,257,320 | 135,414,214 |
| esv3693382 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 138,149,166 | 138,306,060 |
| esv3693382 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 137,288,987 | 137,445,881 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508365 | copy number gain | C010079 | SNP array | Probe signal intensity | Healthy individuals | 3 | essv16508362 |
| essv16508368 | copy number gain | C010080 | SNP array | Probe signal intensity | Healthy individuals | 3 | essv16508367, essv16508366 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508365 | Remapped | Perfect | NC_000009.12:g.(?_ 135257320)_(135414 214_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,257,320 | 135,414,214 |
| essv16508368 | Remapped | Perfect | NC_000009.12:g.(?_ 135257320)_(135414 214_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,257,320 | 135,414,214 |
| essv16508365 | Remapped | Perfect | NC_000009.11:g.(?_ 138149166)_(138306 060_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 138,149,166 | 138,306,060 |
| essv16508368 | Remapped | Perfect | NC_000009.11:g.(?_ 138149166)_(138306 060_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 138,149,166 | 138,306,060 |
| essv16508365 | Submitted genomic | NC_000009.10:g.(?_ 137288987)_(137445 881_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 137,288,987 | 137,445,881 | ||
| essv16508368 | Submitted genomic | NC_000009.10:g.(?_ 137288987)_(137445 881_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 137,288,987 | 137,445,881 |