esv3475040
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:43,373
- 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: 1529 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1529 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 974 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3475040 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,445,951 (-73, +127) | 32,489,323 (-120, +70) |
| esv3475040 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,413,728 (-73, +127) | 32,457,100 (-120, +70) |
| esv3475040 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,521,706 (-73, +127) | 32,565,078 (-120, +70) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7917092 | deletion | SAMN00001554 | Sequencing | Paired-end mapping | 9,542 |
| essv7917093 | deletion | SAMN00801055 | Sequencing | Paired-end mapping | 13,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7917092 | Remapped | Perfect | NC_000006.12:g.(32 445878_32446078)_( 32489203_32489393) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,445,951 (-73, +127) | 32,489,323 (-120, +70) |
| essv7917093 | Remapped | Perfect | NC_000006.12:g.(32 445878_32446078)_( 32489203_32489393) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,445,951 (-73, +127) | 32,489,323 (-120, +70) |
| essv7917092 | Remapped | Perfect | NC_000006.11:g.(32 413655_32413855)_( 32456980_32457170) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,413,728 (-73, +127) | 32,457,100 (-120, +70) |
| essv7917093 | Remapped | Perfect | NC_000006.11:g.(32 413655_32413855)_( 32456980_32457170) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,413,728 (-73, +127) | 32,457,100 (-120, +70) |
| essv7917092 | Submitted genomic | NC_000006.10:g.(32 521633_32521833)_( 32564958_32565148) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,521,706 (-73, +127) | 32,565,078 (-120, +70) | ||
| essv7917093 | Submitted genomic | NC_000006.10:g.(32 521633_32521833)_( 32564958_32565148) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,521,706 (-73, +127) | 32,565,078 (-120, +70) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7917092 | 36 | SAMN00001554 | Digital array | Other | Fail |
| essv7917093 | 36 | SAMN00801055 | Digital array | Other | Fail |
| essv7917092 | 38 | SAMN00001554 | Digital array | Other | Pass |
| essv7917093 | 38 | SAMN00801055 | Digital array | Other | Pass |
| essv7917092 | 37 | SAMN00001554 | Sequencing | de novo sequence assembly | Pass |
| essv7917093 | 37 | SAMN00801055 | Sequencing | de novo sequence assembly | Pass |