esv3418964
- 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:113,999
- 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: 1192 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1207 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 557 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3418964 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,627,878 (-1000, +1000) | 10,741,876 (-1000, +1000) |
| esv3418964 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,770,581 (-1000, +1000) | 10,884,579 (-1000, +1000) |
| esv3418964 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,792,452 (-1000, +1000) | 9,906,450 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8692771 | duplication | SAMN00001695 | Sequencing | Read depth | 37,049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8692771 | Remapped | Perfect | NC_000021.9:g.(106 26878_10628878)_(1 0740876_10742876)d up | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,878 (-1000, +1000) | 10,741,876 (-1000, +1000) |
| essv8692771 | Remapped | Perfect | NC_000021.8:g.(107 69581_10771581)_(1 0883579_10885579)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,770,581 (-1000, +1000) | 10,884,579 (-1000, +1000) |
| essv8692771 | Submitted genomic | NC_000021.7:g.(979 1452_9793452)_(990 5450_9907450)dup11 3900 | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,792,452 (-1000, +1000) | 9,906,450 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8692771 | 18 | SAMN00001695 | Oligo aCGH | Probe signal intensity | Pass |