esv3646713
- 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: 248 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3646713 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 25,658,931 | 25,658,931 |
esv3646713 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 27,031,243 | 27,031,243 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16296981 | line1 insertion | SAMN00006459 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,775 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16296981 | Remapped | Perfect | NC_000021.9:g.2565 8931_25658932ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 25,658,931 | 25,658,931 |
essv16296981 | Submitted genomic | NC_000021.8:g.2703 1243_27031244ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,031,243 | 27,031,243 |