esv3349795
- 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:359,227
- 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: 831 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 831 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3349795 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 54,318,619 (-60, +50) | 54,677,845 (-40, +50) |
| esv3349795 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 54,892,754 (-60, +50) | 55,251,980 (-40, +50) |
| esv3349795 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 53,790,755 (-60, +50) | 54,149,981 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8815278 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8815278 | Remapped | Perfect | NC_000013.11:g.(54 318559_54318669)_( 54677805_54677895) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 54,318,619 (-60, +50) | 54,677,845 (-40, +50) |
| essv8815278 | Remapped | Perfect | NC_000013.10:g.(54 892694_54892804)_( 55251940_55252030) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 54,892,754 (-60, +50) | 55,251,980 (-40, +50) |
| essv8815278 | Submitted genomic | NC_000013.9:g.(537 90695_53790805)_(5 4149941_54150031)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 53,790,755 (-60, +50) | 54,149,981 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8815278 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |