esv3593171
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15
- 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: 150 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3593171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 161,802,814 (-0, +15) | 161,802,828 (-15, +0) |
| esv3593171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 162,659,324 (-0, +15) | 162,659,338 (-15, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10740682 | insertion | SAMN00001132 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,992 |
| essv10740683 | insertion | SAMN00001133 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,069 |
| essv10740684 | insertion | SAMN00001150 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,142 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10740682 | Remapped | Perfect | NC_000002.12:g.(16 1802814_161802829) _(161802813_161802 828)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 161,802,814 (-0, +15) | 161,802,828 (-15, +0) |
| essv10740683 | Remapped | Perfect | NC_000002.12:g.(16 1802814_161802829) _(161802813_161802 828)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 161,802,814 (-0, +15) | 161,802,828 (-15, +0) |
| essv10740684 | Remapped | Perfect | NC_000002.12:g.(16 1802814_161802829) _(161802813_161802 828)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 161,802,814 (-0, +15) | 161,802,828 (-15, +0) |
| essv10740682 | Submitted genomic | NC_000002.11:g.(16 2659324_162659339) _(162659323_162659 338)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 162,659,324 (-0, +15) | 162,659,338 (-15, +0) | ||
| essv10740683 | Submitted genomic | NC_000002.11:g.(16 2659324_162659339) _(162659323_162659 338)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 162,659,324 (-0, +15) | 162,659,338 (-15, +0) | ||
| essv10740684 | Submitted genomic | NC_000002.11:g.(16 2659324_162659339) _(162659323_162659 338)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 162,659,324 (-0, +15) | 162,659,338 (-15, +0) |