esv3647484
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 149 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3647484 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 26,773,181 | 26,773,181 |
| esv3647484 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 27,169,144 | 27,169,144 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16396647 | sva insertion | SAMN00009154 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,953 |
| essv16396648 | sva insertion | SAMN01091102 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,849 |
| essv16396649 | sva insertion | SAMN00007749 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,703 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16396647 | Remapped | Perfect | NC_000022.11:g.267 73181_26773182ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 26,773,181 | 26,773,181 |
| essv16396648 | Remapped | Perfect | NC_000022.11:g.267 73181_26773182ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 26,773,181 | 26,773,181 |
| essv16396649 | Remapped | Perfect | NC_000022.11:g.267 73181_26773182ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 26,773,181 | 26,773,181 |
| essv16396647 | Submitted genomic | NC_000022.10:g.271 69144_27169145ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 27,169,144 | 27,169,144 | ||
| essv16396648 | Submitted genomic | NC_000022.10:g.271 69144_27169145ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 27,169,144 | 27,169,144 | ||
| essv16396649 | Submitted genomic | NC_000022.10:g.271 69144_27169145ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 27,169,144 | 27,169,144 |