esv9645
- 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:13,731
- 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: 568 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv9645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 134,100,085 | 134,100,233 | 134,113,592 | 134,113,815 |
| esv9645 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 133,784,838 | 133,784,986 | 133,798,345 | 133,798,568 |
| esv9645 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 133,435,378 | 133,435,526 | 133,448,885 | 133,449,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv32086 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv32086 | Remapped | Perfect | NC_000007.14:g.(13 4100085_134100233) _(134113592_134113 815)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,085 | 134,100,233 | 134,113,592 | 134,113,815 |
| essv32086 | Remapped | Perfect | NC_000007.13:g.(13 3784838_133784986) _(133798345_133798 568)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,784,838 | 133,784,986 | 133,798,345 | 133,798,568 |
| essv32086 | Submitted genomic | NC_000007.12:g.(13 3435378_133435526) _(133448885_133449 108)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,378 | 133,435,526 | 133,448,885 | 133,449,108 |