esv3365277
- 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:90,699
- 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: 691 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 338 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3365277 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,567,378 (-1000, +1000) | 49,658,076 (-1000, +1000) |
| esv3365277 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 49,569,395 (-1000, +1000) | 49,660,093 (-1000, +1000) |
| esv3365277 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 49,264,152 (-1000, +1000) | 49,354,850 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8694447 | duplication | SAMN00001694 | Sequencing | Read depth | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8694447 | Remapped | Perfect | NC_000004.12:g.(49 566378_49568378)_( 49657076_49659076) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,567,378 (-1000, +1000) | 49,658,076 (-1000, +1000) |
| essv8694447 | Remapped | Perfect | NC_000004.11:g.(49 568395_49570395)_( 49659093_49661093) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,569,395 (-1000, +1000) | 49,660,093 (-1000, +1000) |
| essv8694447 | Submitted genomic | NC_000004.10:g.(49 263152_49265152)_( 49353850_49355850) dup90600 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 49,264,152 (-1000, +1000) | 49,354,850 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8694447 | 18 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Pass |