esv3384260
- 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:858
- 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: 84 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3384260 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,637,618 (-60, +50) | 117,638,475 (-40, +50) |
| esv3384260 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 117,277,672 (-60, +50) | 117,278,529 (-40, +50) |
| esv3384260 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 117,064,908 (-60, +50) | 117,065,765 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8839400 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8839400 | Remapped | Perfect | NC_000007.14:g.(11 7637558_117637668) _(117638435_117638 525)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,637,618 (-60, +50) | 117,638,475 (-40, +50) |
| essv8839400 | Remapped | Perfect | NC_000007.13:g.(11 7277612_117277722) _(117278489_117278 579)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 117,277,672 (-60, +50) | 117,278,529 (-40, +50) |
| essv8839400 | Submitted genomic | NC_000007.12:g.(11 7064848_117064958) _(117065725_117065 815)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 117,064,908 (-60, +50) | 117,065,765 (-40, +50) |