esv2669636
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:220,552
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 1217 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1217 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2669636 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,263,772 | 21,263,806 | 21,484,288 | 21,484,323 |
| esv2669636 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 21,263,881 | 21,263,915 | 21,484,397 | 21,484,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5421711 | deletion | SAMN00001148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5421711 | Remapped | Perfect | NC_000005.10:g.(21 263772_21263806)_( 21484288_21484323) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,263,772 | 21,263,806 | 21,484,288 | 21,484,323 |
| essv5421711 | Submitted genomic | NC_000005.9:g.(212 63881_21263915)_(2 1484397_21484432)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 21,263,881 | 21,263,915 | 21,484,397 | 21,484,432 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5421711 | 7 | SAMN00001148 | SNP array | Probe signal intensity | Pass |