esv3853503
- 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:16,416
- 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: 243 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3853503 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,283,573 (-11, +11) | 39,299,988 (-11, +11) |
| esv3853503 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 189,287 (-11, +11) | 205,700 (-11, +11) |
| esv3853503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,141,092 (-11, +11) | 39,157,507 (-11, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21125196 | deletion | HG00266 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,826 |
| essv21125197 | deletion | HG00273 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,668 |
| essv21125198 | deletion | HG00356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,227 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21125196 | Remapped | Good | NT_187577.1:g.(189 276_189298)_(20568 9_205711)del | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 189,287 (-11, +11) | 205,700 (-11, +11) |
| essv21125197 | Remapped | Good | NT_187577.1:g.(189 276_189298)_(20568 9_205711)del | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 189,287 (-11, +11) | 205,700 (-11, +11) |
| essv21125198 | Remapped | Good | NT_187577.1:g.(189 276_189298)_(20568 9_205711)del | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 189,287 (-11, +11) | 205,700 (-11, +11) |
| essv21125196 | Remapped | Perfect | NC_000008.11:g.(39 283562_39283584)_( 39299977_39299999) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,283,573 (-11, +11) | 39,299,988 (-11, +11) |
| essv21125197 | Remapped | Perfect | NC_000008.11:g.(39 283562_39283584)_( 39299977_39299999) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,283,573 (-11, +11) | 39,299,988 (-11, +11) |
| essv21125198 | Remapped | Perfect | NC_000008.11:g.(39 283562_39283584)_( 39299977_39299999) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,283,573 (-11, +11) | 39,299,988 (-11, +11) |
| essv21125196 | Submitted genomic | NC_000008.10:g.(39 141081_39141103)_( 39157496_39157518) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,141,092 (-11, +11) | 39,157,507 (-11, +11) | ||
| essv21125197 | Submitted genomic | NC_000008.10:g.(39 141081_39141103)_( 39157496_39157518) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,141,092 (-11, +11) | 39,157,507 (-11, +11) | ||
| essv21125198 | Submitted genomic | NC_000008.10:g.(39 141081_39141103)_( 39157496_39157518) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,141,092 (-11, +11) | 39,157,507 (-11, +11) |