esv3502787
- 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:Yes
- Clinical Assertions: No
- Region Size:366,409
- 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: 749 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3502787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,537,970 (-60, +50) | 97,904,378 (-40, +50) |
| esv3502787 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 98,459,121 (-60, +50) | 98,825,529 (-40, +50) |
| esv3502787 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 98,678,144 (-60, +50) | 99,044,552 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8834730 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8834730 | Remapped | Perfect | NC_000004.12:g.(97 537910_97538020)_( 97904338_97904428) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,537,970 (-60, +50) | 97,904,378 (-40, +50) |
| essv8834730 | Remapped | Perfect | NC_000004.11:g.(98 459061_98459171)_( 98825489_98825579) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,459,121 (-60, +50) | 98,825,529 (-40, +50) |
| essv8834730 | Submitted genomic | NC_000004.10:g.(98 678084_98678194)_( 99044512_99044602) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,678,144 (-60, +50) | 99,044,552 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8834730 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |