esv3446703
- 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:425,196
- 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: 1267 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1267 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3446703 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 102,234,725 (-60, +50) | 102,659,920 (-40, +50) |
| esv3446703 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 102,700,281 (-60, +50) | 103,125,476 (-40, +50) |
| esv3446703 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 102,472,869 (-60, +50) | 102,898,064 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8822652 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8822652 | Remapped | Perfect | NC_000001.11:g.(10 2234665_102234775) _(102659880_102659 970)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,234,725 (-60, +50) | 102,659,920 (-40, +50) |
| essv8822652 | Remapped | Perfect | NC_000001.10:g.(10 2700221_102700331) _(103125436_103125 526)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 102,700,281 (-60, +50) | 103,125,476 (-40, +50) |
| essv8822652 | Submitted genomic | NC_000001.9:g.(102 472809_102472919)_ (102898024_1028981 14)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 102,472,869 (-60, +50) | 102,898,064 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8822652 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |