esv3618170
- 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:93
- 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: 278 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 278 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3618170 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 99,143,983 (-0, +93) | 99,144,075 (-93, +0) |
| esv3618170 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 100,156,211 (-0, +93) | 100,156,303 (-93, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13267456 | insertion | SAMN00006439 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,803 |
| essv13267457 | insertion | SAMN00006573 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,632 |
| essv13267458 | insertion | SAMN00000486 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,831 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13267456 | Remapped | Perfect | NC_000008.11:g.(99 143983_99144076)_( 99143982_99144075) ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,143,983 (-0, +93) | 99,144,075 (-93, +0) |
| essv13267457 | Remapped | Perfect | NC_000008.11:g.(99 143983_99144076)_( 99143982_99144075) ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,143,983 (-0, +93) | 99,144,075 (-93, +0) |
| essv13267458 | Remapped | Perfect | NC_000008.11:g.(99 143983_99144076)_( 99143982_99144075) ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,143,983 (-0, +93) | 99,144,075 (-93, +0) |
| essv13267456 | Submitted genomic | NC_000008.10:g.(10 0156211_100156304) _(100156210_100156 303)ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 100,156,211 (-0, +93) | 100,156,303 (-93, +0) | ||
| essv13267457 | Submitted genomic | NC_000008.10:g.(10 0156211_100156304) _(100156210_100156 303)ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 100,156,211 (-0, +93) | 100,156,303 (-93, +0) | ||
| essv13267458 | Submitted genomic | NC_000008.10:g.(10 0156211_100156304) _(100156210_100156 303)ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 100,156,211 (-0, +93) | 100,156,303 (-93, +0) |