esv3882179
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:253,640
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 1345 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1345 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3882179 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,414,787 (-8, +8) | 66,668,426 (-8, +8) |
| esv3882179 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 64,082,024 (-8, +8) | 64,335,663 (-8, +8) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24515069 | deletion | HG00288 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,398 |
| essv24515070 | deletion | HG00358 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,245 |
| essv24515071 | deletion | HG03061 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,511 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24515069 | Remapped | Perfect | NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,414,787 (-8, +8) | 66,668,426 (-8, +8) |
| essv24515070 | Remapped | Perfect | NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,414,787 (-8, +8) | 66,668,426 (-8, +8) |
| essv24515071 | Remapped | Perfect | NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,414,787 (-8, +8) | 66,668,426 (-8, +8) |
| essv24515069 | Submitted genomic | NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 64,082,024 (-8, +8) | 64,335,663 (-8, +8) | ||
| essv24515070 | Submitted genomic | NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 64,082,024 (-8, +8) | 64,335,663 (-8, +8) | ||
| essv24515071 | Submitted genomic | NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 64,082,024 (-8, +8) | 64,335,663 (-8, +8) |