esv3450455
- 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:64,231
- 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: 269 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3450455 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 93,126,459 (-18, +16) | 93,190,689 (-18, +16) |
| esv3450455 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 94,047,610 (-18, +16) | 94,111,840 (-18, +16) |
| esv3450455 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 94,266,633 (-18, +16) | 94,330,863 (-18, +16) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8671252 | duplication | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8671252 | Remapped | Perfect | NC_000004.12:g.(93 126441_93126475)_( 93190671_93190705) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 93,126,459 (-18, +16) | 93,190,689 (-18, +16) |
| essv8671252 | Remapped | Perfect | NC_000004.11:g.(94 047592_94047626)_( 94111822_94111856) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 94,047,610 (-18, +16) | 94,111,840 (-18, +16) |
| essv8671252 | Submitted genomic | NC_000004.10:g.(94 266615_94266649)_( 94330845_94330879) dup64230 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 94,266,633 (-18, +16) | 94,330,863 (-18, +16) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8671252 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Pass |