esv3431417
- 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:85,899
- 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: 2960 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2962 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2133 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3431417 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,475,630 (-1000, +1000) | 32,561,528 (-1000, +1000) |
| esv3431417 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,486,951 (-1000, +1000) | 32,572,849 (-1000, +1000) |
| esv3431417 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 32,394,452 (-1000, +1000) | 32,480,350 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8690055 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8690055 | Remapped | Perfect | NC_000016.10:g.(32 474630_32476630)_( 32560528_32562528) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,475,630 (-1000, +1000) | 32,561,528 (-1000, +1000) |
| essv8690055 | Remapped | Perfect | NC_000016.9:g.(324 85951_32487951)_(3 2571849_32573849)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,486,951 (-1000, +1000) | 32,572,849 (-1000, +1000) |
| essv8690055 | Submitted genomic | NC_000016.8:g.(323 93452_32395452)_(3 2479350_32481350)d up85800 | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,394,452 (-1000, +1000) | 32,480,350 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8690055 | 18 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Pass |