esv275412
- 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:14,206
- 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: 119 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 42 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 135,277,246 | 135,287,136 | 135,288,009 | 135,291,451 |
| esv275412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 134,612,936 | 134,622,826 | 134,623,699 | 134,627,141 |
| esv275412 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 134,640,835 | 134,650,725 | 134,651,598 | 134,655,040 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585202 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585202 | Remapped | Perfect | NC_000005.10:g.(13 5277246_135287136) _(135288009_135291 451)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 135,277,246 | 135,287,136 | 135,288,009 | 135,291,451 |
| essv2585202 | Remapped | Perfect | NC_000005.9:g.(134 612936_134622826)_ (134623699_1346271 41)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 134,612,936 | 134,622,826 | 134,623,699 | 134,627,141 |
| essv2585202 | Submitted genomic | NC_000005.8:g.(134 640835_134650725)_ (134651598_1346550 40)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 134,640,835 | 134,650,725 | 134,651,598 | 134,655,040 |