esv3372415
- 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:Fail
- Clinical Assertions: No
- Region Size:375,984
- 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: 865 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 865 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3372415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 193,643,102 (-60, +50) | 194,019,085 (-40, +50) |
| esv3372415 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 193,612,232 (-60, +50) | 193,988,215 (-40, +50) |
| esv3372415 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 191,878,855 (-60, +50) | 192,254,838 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8823419 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8823419 | Remapped | Perfect | NC_000001.11:g.(19 3643042_193643152) _(194019045_194019 135)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 193,643,102 (-60, +50) | 194,019,085 (-40, +50) |
| essv8823419 | Remapped | Perfect | NC_000001.10:g.(19 3612172_193612282) _(193988175_193988 265)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 193,612,232 (-60, +50) | 193,988,215 (-40, +50) |
| essv8823419 | Submitted genomic | NC_000001.9:g.(191 878795_191878905)_ (192254798_1922548 88)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 191,878,855 (-60, +50) | 192,254,838 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8823419 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |