esv6961
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,769
- Publication(s):Ahn 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: 945 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1075 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6961 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,684,068 | 2,684,530 | 2,697,592 | 2,697,836 |
| esv6961 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 2,615,507 | 2,615,969 | 2,629,031 | 2,629,275 |
| esv6961 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 2,605,367 | 2,605,829 | 2,618,891 | 2,619,135 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29402 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29402 | Remapped | Perfect | NC_000001.11:g.(26 84068_2684530)_(26 97592_2697836)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,684,068 | 2,684,530 | 2,697,592 | 2,697,836 |
| essv29402 | Remapped | Perfect | NC_000001.10:g.(26 15507_2615969)_(26 29031_2629275)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 2,615,507 | 2,615,969 | 2,629,031 | 2,629,275 |
| essv29402 | Submitted genomic | NC_000001.9:g.(260 5367_2605829)_(261 8891_2619135)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 2,605,367 | 2,605,829 | 2,618,891 | 2,619,135 |