esv3647037
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- 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: 269 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3647037 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,368,226 | 40,368,226 |
| esv3647037 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 41,740,153 | 41,740,153 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16321848 | line1 insertion | SAMN00263020 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,645 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16321848 | Remapped | Perfect | NC_000021.9:g.4036 8226_40368227ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,368,226 | 40,368,226 |
| essv16321848 | Submitted genomic | NC_000021.8:g.4174 0153_41740154ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 41,740,153 | 41,740,153 |