esv3842698
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,197
- 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: 185 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3842698 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 152,283,749 (-10, +11) | 152,324,945 (-10, +11) |
| esv3842698 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 151,663,310 (-10, +11) | 151,704,506 (-10, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19812035 | deletion | HG00319 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,162 |
| essv19812036 | deletion | HG00357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,038 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19812035 | Remapped | Perfect | NC_000005.10:g.(15 2283739_152283760) _(152324935_152324 956)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 152,283,749 (-10, +11) | 152,324,945 (-10, +11) |
| essv19812036 | Remapped | Perfect | NC_000005.10:g.(15 2283739_152283760) _(152324935_152324 956)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 152,283,749 (-10, +11) | 152,324,945 (-10, +11) |
| essv19812035 | Submitted genomic | NC_000005.9:g.(151 663300_151663321)_ (151704496_1517045 17)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 151,663,310 (-10, +11) | 151,704,506 (-10, +11) | ||
| essv19812036 | Submitted genomic | NC_000005.9:g.(151 663300_151663321)_ (151704496_1517045 17)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 151,663,310 (-10, +11) | 151,704,506 (-10, +11) |