esv3414640
- 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:Fail
- Clinical Assertions: No
- Region Size:506,021
- 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: 845 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 845 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3414640 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 78,620,050 (-95, +75) | 79,126,070 (-102, +88) |
| esv3414640 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 78,331,095 (-95, +75) | 78,837,115 (-102, +88) |
| esv3414640 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 78,008,743 (-95, +75) | 78,514,763 (-102, +88) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8719031 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8719031 | Remapped | Perfect | NC_000011.10:g.(78 619955_78620125)_( 79125968_79126158) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 78,620,050 (-95, +75) | 79,126,070 (-102, +88) |
| essv8719031 | Remapped | Perfect | NC_000011.9:g.(783 31000_78331170)_(7 8837013_78837203)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 78,331,095 (-95, +75) | 78,837,115 (-102, +88) |
| essv8719031 | Submitted genomic | NC_000011.8:g.(780 08648_78008818)_(7 8514661_78514851)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 78,008,743 (-95, +75) | 78,514,763 (-102, +88) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8719031 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Fail |