esv3647034
- 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: 264 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3647034 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,274,639 | 40,274,639 |
| esv3647034 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 41,646,566 | 41,646,566 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16321787 | line1 insertion | SAMN00001059 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,175 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16321787 | Remapped | Perfect | NC_000021.9:g.4027 4639_40274640ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,274,639 | 40,274,639 |
| essv16321787 | Submitted genomic | NC_000021.8:g.4164 6566_41646567ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 41,646,566 | 41,646,566 |