esv3824602
- 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:24,522
- 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: 222 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3824602 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 63,313,527 (-8, +8) | 63,338,048 (-8, +8) |
| esv3824602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 63,540,662 (-8, +8) | 63,565,183 (-8, +8) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17687974 | deletion | HG00671 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,639 |
| essv17687975 | deletion | HG02379 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,697 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17687974 | Remapped | Perfect | NC_000002.12:g.(63 313519_63313535)_( 63338040_63338056) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 63,313,527 (-8, +8) | 63,338,048 (-8, +8) |
| essv17687975 | Remapped | Perfect | NC_000002.12:g.(63 313519_63313535)_( 63338040_63338056) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 63,313,527 (-8, +8) | 63,338,048 (-8, +8) |
| essv17687974 | Submitted genomic | NC_000002.11:g.(63 540654_63540670)_( 63565175_63565191) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 63,540,662 (-8, +8) | 63,565,183 (-8, +8) | ||
| essv17687975 | Submitted genomic | NC_000002.11:g.(63 540654_63540670)_( 63565175_63565191) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 63,540,662 (-8, +8) | 63,565,183 (-8, +8) |