esv3620924
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10
- 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: 124 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3620924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 84,879,574 (-0, +10) | 84,879,583 (-10, +0) |
| esv3620924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 87,494,489 (-0, +10) | 87,494,498 (-10, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13542198 | insertion | SAMN01096796 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,622 |
| essv13542199 | insertion | SAMN00004499 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,810 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13542198 | Remapped | Perfect | NC_000009.12:g.(84 879574_84879584)_( 84879573_84879583) ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 84,879,574 (-0, +10) | 84,879,583 (-10, +0) |
| essv13542199 | Remapped | Perfect | NC_000009.12:g.(84 879574_84879584)_( 84879573_84879583) ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 84,879,574 (-0, +10) | 84,879,583 (-10, +0) |
| essv13542198 | Submitted genomic | NC_000009.11:g.(87 494489_87494499)_( 87494488_87494498) ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 87,494,489 (-0, +10) | 87,494,498 (-10, +0) | ||
| essv13542199 | Submitted genomic | NC_000009.11:g.(87 494489_87494499)_( 87494488_87494498) ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 87,494,489 (-0, +10) | 87,494,498 (-10, +0) |