esv3427509
- 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:365,937
- 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: 795 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 795 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3427509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 106,169,675 (-60, +50) | 106,535,611 (-40, +50) |
| esv3427509 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 105,505,376 (-60, +50) | 105,871,312 (-40, +50) |
| esv3427509 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 105,533,275 (-60, +50) | 105,899,211 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8835199 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8835199 | Remapped | Perfect | NC_000005.10:g.(10 6169615_106169725) _(106535571_106535 661)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 106,169,675 (-60, +50) | 106,535,611 (-40, +50) |
| essv8835199 | Remapped | Perfect | NC_000005.9:g.(105 505316_105505426)_ (105871272_1058713 62)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 105,505,376 (-60, +50) | 105,871,312 (-40, +50) |
| essv8835199 | Submitted genomic | NC_000005.8:g.(105 533215_105533325)_ (105899171_1058992 61)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 105,533,275 (-60, +50) | 105,899,211 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8835199 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |