esv5515
- 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:220
- 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: 264 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 132,276,861 | 132,276,931 | 132,277,023 | 132,277,080 |
| esv5515 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 133,034,434 | 133,034,504 | 133,034,596 | 133,034,653 |
| esv5515 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 132,750,904 | 132,750,974 | 132,751,066 | 132,751,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv27956 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv27956 | Remapped | Perfect | NC_000002.12:g.(13 2276861_132276931) _(132277023_132277 080)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 132,276,861 | 132,276,931 | 132,277,023 | 132,277,080 |
| essv27956 | Remapped | Perfect | NC_000002.11:g.(13 3034434_133034504) _(133034596_133034 653)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 133,034,434 | 133,034,504 | 133,034,596 | 133,034,653 |
| essv27956 | Submitted genomic | NC_000002.10:g.(13 2750904_132750974) _(132751066_132751 123)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 132,750,904 | 132,750,974 | 132,751,066 | 132,751,123 |