esv275279
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,375
- Publication(s):Banerjee et al. 2011
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: 323 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 244,813,549 | 244,823,079 | 244,823,897 | 244,824,923 |
| esv275279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 244,976,851 | 244,986,381 | 244,987,199 | 244,988,225 |
| esv275279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 243,043,474 | 243,053,004 | 243,053,822 | 243,054,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585724 | copy number loss | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585724 | Remapped | Perfect | NC_000001.11:g.(24 4813549_244823079) _(244823897_244824 923)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 244,813,549 | 244,823,079 | 244,823,897 | 244,824,923 |
| essv2585724 | Remapped | Perfect | NC_000001.10:g.(24 4976851_244986381) _(244987199_244988 225)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 244,976,851 | 244,986,381 | 244,987,199 | 244,988,225 |
| essv2585724 | Submitted genomic | NC_000001.9:g.(243 043474_243053004)_ (243053822_2430548 48)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 243,043,474 | 243,053,004 | 243,053,822 | 243,054,848 |