esv3363816
- 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:458,111
- 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: 877 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2218 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 761 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3363816 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,638,163 (-60, +50) | 62,096,273 (-40, +50) |
| esv3363816 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 332,182 (-60, +50) | 610,808 (-40, +50) |
| esv3363816 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,266,121 (-60, +50) | 61,883,837 (-40, +50) |
| esv3363816 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,270,063 (-60, +50) | 61,521,272 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8840429 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8840429 | Remapped | Pass | NT_187383.1:g.(332 122_332232)_(61076 8_610858)delNC_000 007.14:g.(61638103 _61638213)_(620962 33_62096323)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,638,163 (-60, +50) | 62,096,273 (-40, +50) |
| essv8840429 | Remapped | Pass | NT_187383.1:g.(332 122_332232)_(61076 8_610858)delNC_000 007.14:g.(61638103 _61638213)_(620962 33_62096323)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 332,182 (-60, +50) | 610,808 (-40, +50) |
| essv8840429 | Remapped | Pass | NC_000007.13:g.(61 266061_61266171)_( 61883797_61883887) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,266,121 (-60, +50) | 61,883,837 (-40, +50) |
| essv8840429 | Submitted genomic | NC_000007.12:g.(61 270003_61270113)_( 61521232_61521322) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,270,063 (-60, +50) | 61,521,272 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8840429 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |