esv3379090
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Fail
- Clinical Assertions: No
- Region Size:341,552
- 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: 676 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 676 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3379090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 25,546,117 (-60, +50) | 25,887,668 (-40, +50) |
| esv3379090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 23,126,081 (-60, +50) | 23,467,632 (-40, +50) |
| esv3379090 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 21,380,079 (-60, +50) | 21,721,630 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8820101 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
| essv8820102 | deletion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8820101 | Remapped | Perfect | NC_000018.10:g.(25 546057_25546167)_( 25887628_25887718) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 25,546,117 (-60, +50) | 25,887,668 (-40, +50) |
| essv8820102 | Remapped | Perfect | NC_000018.10:g.(25 546057_25546167)_( 25887628_25887718) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 25,546,117 (-60, +50) | 25,887,668 (-40, +50) |
| essv8820101 | Remapped | Perfect | NC_000018.9:g.(231 26021_23126131)_(2 3467592_23467682)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 23,126,081 (-60, +50) | 23,467,632 (-40, +50) |
| essv8820102 | Remapped | Perfect | NC_000018.9:g.(231 26021_23126131)_(2 3467592_23467682)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 23,126,081 (-60, +50) | 23,467,632 (-40, +50) |
| essv8820101 | Submitted genomic | NC_000018.8:g.(213 80019_21380129)_(2 1721590_21721680)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 21,380,079 (-60, +50) | 21,721,630 (-40, +50) | ||
| essv8820102 | Submitted genomic | NC_000018.8:g.(213 80019_21380129)_(2 1721590_21721680)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 21,380,079 (-60, +50) | 21,721,630 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8820102 | 18 | SAMN00001696 | Oligo aCGH | Probe signal intensity | Fail |
| essv8820101 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |