esv3380173
- 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:112,299
- 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: 4004 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3996 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2791 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3380173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,316,885 (-1000, +1000) | 20,429,183 (-1000, +1000) |
| esv3380173 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,522,138 (-1000, +1000) | 20,634,436 (-1000, +1000) |
| esv3380173 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,782,152 (-1000, +1000) | 18,894,450 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8689549 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8689549 | Remapped | Perfect | NC_000015.10:g.(20 315885_20317885)_( 20428183_20430183) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,316,885 (-1000, +1000) | 20,429,183 (-1000, +1000) |
| essv8689549 | Remapped | Perfect | NC_000015.9:g.(205 21138_20523138)_(2 0633436_20635436)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,522,138 (-1000, +1000) | 20,634,436 (-1000, +1000) |
| essv8689549 | Submitted genomic | NC_000015.8:g.(187 81152_18783152)_(1 8893450_18895450)d up112200 | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,782,152 (-1000, +1000) | 18,894,450 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8689549 | 18 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Pass |