esv3585965
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,392
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 188 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3585965 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 48,282,463 (-500, +0) | 48,313,854 (-0, +500) |
| esv3585965 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 48,748,135 (-500, +0) | 48,779,526 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv9926721 | deletion | SAMN00016978 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,554 |
| essv9926722 | deletion | SAMN00006429 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,737 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9926721 | Remapped | Perfect | NC_000001.11:g.(48 281963_48282463)_( 48313854_48314354) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 48,282,463 (-500, +0) | 48,313,854 (-0, +500) |
| essv9926722 | Remapped | Perfect | NC_000001.11:g.(48 281963_48282463)_( 48313854_48314354) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 48,282,463 (-500, +0) | 48,313,854 (-0, +500) |
| essv9926721 | Submitted genomic | NC_000001.10:g.(48 747635_48748135)_( 48779526_48780026) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 48,748,135 (-500, +0) | 48,779,526 (-0, +500) | ||
| essv9926722 | Submitted genomic | NC_000001.10:g.(48 747635_48748135)_( 48779526_48780026) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 48,748,135 (-500, +0) | 48,779,526 (-0, +500) |