esv2678741
- 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:33,052
- 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: 244 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2678741 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 18,941,035 | 18,941,072 | 18,974,036 | 18,974,086 |
| esv2678741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 18,942,658 | 18,942,695 | 18,975,659 | 18,975,709 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5751043 | deletion | SAMN00004669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,071 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5751043 | Remapped | Perfect | NC_000004.12:g.(18 941035_18941072)_( 18974036_18974086) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 18,941,035 | 18,941,072 | 18,974,036 | 18,974,086 |
| essv5751043 | Submitted genomic | NC_000004.11:g.(18 942658_18942695)_( 18975659_18975709) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 18,942,658 | 18,942,695 | 18,975,659 | 18,975,709 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5751043 | 7 | SAMN00004669 | SNP array | Probe signal intensity | Pass |