esv3367580
- 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:89,399
- 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: 1085 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1097 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3367580 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,651,078 (-1000, +1000) | 10,740,476 (-1000, +1000) |
| esv3367580 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,771,981 (-1000, +1000) | 10,861,379 (-1000, +1000) |
| esv3367580 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,793,852 (-1000, +1000) | 9,883,250 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8692774 | duplication | SAMN00801914 | Sequencing | Read depth | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8692774 | Remapped | Perfect | NC_000021.9:g.(106 50078_10652078)_(1 0739476_10741476)d up | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,651,078 (-1000, +1000) | 10,740,476 (-1000, +1000) |
| essv8692774 | Remapped | Perfect | NC_000021.8:g.(107 70981_10772981)_(1 0860379_10862379)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,771,981 (-1000, +1000) | 10,861,379 (-1000, +1000) |
| essv8692774 | Submitted genomic | NC_000021.7:g.(979 2852_9794852)_(988 2250_9884250)dup89 300 | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,793,852 (-1000, +1000) | 9,883,250 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8692774 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Pass |