esv3365685
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 83 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3365685 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,636,938 (-40, +10) | 117,637,071 (-30, +20) |
| esv3365685 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 117,276,992 (-40, +10) | 117,277,125 (-30, +20) |
| esv3365685 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 117,064,228 (-40, +10) | 117,064,361 (-30, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv8648722 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8648722 | Remapped | Perfect | NC_000007.14:g.(11 7636898_117636948) _(117637041_117637 091)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,636,938 (-40, +10) | 117,637,071 (-30, +20) |
| essv8648722 | Remapped | Perfect | NC_000007.13:g.(11 7276952_117277002) _(117277095_117277 145)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 117,276,992 (-40, +10) | 117,277,125 (-30, +20) |
| essv8648722 | Submitted genomic | NC_000007.12:g.(11 7064188_117064238) _(117064331_117064 381)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 117,064,228 (-40, +10) | 117,064,361 (-30, +20) |