esv3614926
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:224,894
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 1030 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1030 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3614926 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 126,199,004 (-11, +11) | 126,423,897 (-11, +11) |
| esv3614926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 125,839,058 (-11, +11) | 126,063,951 (-11, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12952696 | deletion | SAMN00000551 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,913 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12952696 | Remapped | Perfect | NC_000007.14:g.(12 6198993_126199015) _(126423886_126423 908)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,199,004 (-11, +11) | 126,423,897 (-11, +11) |
| essv12952696 | Submitted genomic | NC_000007.13:g.(12 5839047_125839069) _(126063940_126063 962)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 125,839,058 (-11, +11) | 126,063,951 (-11, +11) |