esv3464824
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:16,617
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 150 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3464824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 16,442,607 (-104, +97) | 16,459,223 (-116, +99) |
| esv3464824 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 16,444,230 (-104, +97) | 16,460,846 (-116, +99) |
| esv3464824 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 16,053,328 (-104, +97) | 16,069,944 (-116, +99) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9047366 | deletion | SAMN00001615 | Sequencing | Paired-end mapping | 9,351 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9047366 | Remapped | Perfect | NC_000004.12:g.(16 442503_16442704)_( 16459107_16459322) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 16,442,607 (-104, +97) | 16,459,223 (-116, +99) |
| essv9047366 | Remapped | Perfect | NC_000004.11:g.(16 444126_16444327)_( 16460730_16460945) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 16,444,230 (-104, +97) | 16,460,846 (-116, +99) |
| essv9047366 | Submitted genomic | NC_000004.10:g.(16 053224_16053425)_( 16069828_16070043) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 16,053,328 (-104, +97) | 16,069,944 (-116, +99) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9047366 | 36 | SAMN00001615 | Digital array | Other | Pass |
| essv9047366 | 38 | SAMN00001615 | Digital array | Other | Pass |