esv3693349
- 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:50,202
- 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: 665 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 665 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 161,032,271 | 161,082,472 |
| esv3693349 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 161,953,423 | 162,003,624 |
| esv3693349 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 162,172,873 | 162,223,074 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508302 | copy number gain | C010043 | SNP array | Probe signal intensity | Healthy individuals | 3 | essv16508301 |
| essv16508483 | copy number gain | C010146 | SNP array | Probe signal intensity | Healthy individuals | 3 | essv16508481, essv16508482 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508302 | Remapped | Perfect | NC_000004.12:g.(?_ 161032271)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,032,271 | 161,082,472 |
| essv16508483 | Remapped | Perfect | NC_000004.12:g.(?_ 161049611)_(161071 853_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,049,611 | 161,071,853 |
| essv16508302 | Remapped | Perfect | NC_000004.11:g.(?_ 161953423)_(162003 624_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,953,423 | 162,003,624 |
| essv16508483 | Remapped | Perfect | NC_000004.11:g.(?_ 161970763)_(161993 005_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,970,763 | 161,993,005 |
| essv16508302 | Submitted genomic | NC_000004.10:g.(?_ 162172873)_(162223 074_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 162,172,873 | 162,223,074 | ||
| essv16508483 | Submitted genomic | NC_000004.10:g.(?_ 162190213)_(162212 455_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 162,190,213 | 162,212,455 |