esv3336764
- 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:377,792
- 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: 1082 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1082 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 400 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3336764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 60,879,848 (-60, +50) | 61,257,639 (-40, +50) |
| esv3336764 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 61,273,629 (-60, +50) | 61,651,420 (-40, +50) |
| esv3336764 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 59,559,896 (-60, +50) | 59,937,687 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8814623 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8814623 | Remapped | Perfect | NC_000012.12:g.(60 879788_60879898)_( 61257599_61257689) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,879,848 (-60, +50) | 61,257,639 (-40, +50) |
| essv8814623 | Remapped | Perfect | NC_000012.11:g.(61 273569_61273679)_( 61651380_61651470) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 61,273,629 (-60, +50) | 61,651,420 (-40, +50) |
| essv8814623 | Submitted genomic | NC_000012.10:g.(59 559836_59559946)_( 59937647_59937737) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 59,559,896 (-60, +50) | 59,937,687 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8814623 | 18 | SAMN00001696 | Oligo aCGH | Probe signal intensity | Fail |