esv3455058
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:44,561
- 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: 461 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 461 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3455058 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 20,428,355 (-91, +82) | 20,472,915 (-104, +84) |
| esv3455058 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 21,800,667 (-91, +82) | 21,845,227 (-104, +84) |
| esv3455058 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 20,722,538 (-91, +82) | 20,767,098 (-104, +84) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9282800 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv9282801 | deletion | SAMN00001674 | Sequencing | Paired-end mapping | 10,842 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9282800 | Remapped | Perfect | NC_000021.9:g.(204 28264_20428437)_(2 0472811_20472999)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 20,428,355 (-91, +82) | 20,472,915 (-104, +84) |
| essv9282801 | Remapped | Perfect | NC_000021.9:g.(204 28264_20428437)_(2 0472811_20472999)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 20,428,355 (-91, +82) | 20,472,915 (-104, +84) |
| essv9282800 | Remapped | Perfect | NC_000021.8:g.(218 00576_21800749)_(2 1845123_21845311)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 21,800,667 (-91, +82) | 21,845,227 (-104, +84) |
| essv9282801 | Remapped | Perfect | NC_000021.8:g.(218 00576_21800749)_(2 1845123_21845311)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 21,800,667 (-91, +82) | 21,845,227 (-104, +84) |
| essv9282800 | Submitted genomic | NC_000021.7:g.(207 22447_20722620)_(2 0766994_20767182)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 20,722,538 (-91, +82) | 20,767,098 (-104, +84) | ||
| essv9282801 | Submitted genomic | NC_000021.7:g.(207 22447_20722620)_(2 0766994_20767182)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 20,722,538 (-91, +82) | 20,767,098 (-104, +84) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9282800 | 36 | SAMN00001583 | Digital array | Other | Pass |
| essv9282800 | 38 | SAMN00001583 | Digital array | Other | Pass |
| essv9282801 | 36 | SAMN00001674 | Digital array | Other | Pass |
| essv9282801 | 38 | SAMN00001674 | Digital array | Other | Pass |