esv3378050
- 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:301,121
- 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: 619 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 619 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3378050 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 44,569,336 (-60, +50) | 44,870,456 (-40, +50) |
| esv3378050 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 44,963,119 (-60, +50) | 45,264,239 (-40, +50) |
| esv3378050 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 43,249,386 (-60, +50) | 43,550,506 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8813891 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8813891 | Remapped | Perfect | NC_000012.12:g.(44 569276_44569386)_( 44870416_44870506) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 44,569,336 (-60, +50) | 44,870,456 (-40, +50) |
| essv8813891 | Remapped | Perfect | NC_000012.11:g.(44 963059_44963169)_( 45264199_45264289) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 44,963,119 (-60, +50) | 45,264,239 (-40, +50) |
| essv8813891 | Submitted genomic | NC_000012.10:g.(43 249326_43249436)_( 43550466_43550556) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 43,249,386 (-60, +50) | 43,550,506 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8813891 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |