esv3881444
- 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:123,406
- 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: 430 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3881444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 36,534,951 | 36,658,356 |
| esv3881444 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 34,114,914 | 34,238,319 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24410571 | copy number loss | NA12004 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,405 |
| essv24410572 | copy number gain | NA18971 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,228 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24410571 | Remapped | Perfect | NC_000018.10:g.365 34951_36658356del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 36,534,951 | 36,658,356 |
| essv24410572 | Remapped | Perfect | NC_000018.10:g.365 34951_36658356dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 36,534,951 | 36,658,356 |
| essv24410571 | Submitted genomic | NC_000018.9:g.3411 4914_34238319del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 34,114,914 | 34,238,319 | ||
| essv24410572 | Submitted genomic | NC_000018.9:g.3411 4914_34238319dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 34,114,914 | 34,238,319 |