esv6421
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:32,442
- Publication(s):Ahn et al. 2009
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: 282 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 10,502,968 | 10,503,053 | 10,535,309 | 10,535,409 |
| esv6421 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 10,542,595 | 10,542,680 | 10,574,936 | 10,575,036 |
| esv6421 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 10,509,120 | 10,509,205 | 10,541,461 | 10,541,561 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28862 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28862 | Remapped | Perfect | NC_000007.14:g.(10 502968_10503053)_( 10535309_10535409) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,502,968 | 10,503,053 | 10,535,309 | 10,535,409 |
| essv28862 | Remapped | Perfect | NC_000007.13:g.(10 542595_10542680)_( 10574936_10575036) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 10,542,595 | 10,542,680 | 10,574,936 | 10,575,036 |
| essv28862 | Submitted genomic | NC_000007.12:g.(10 509120_10509205)_( 10541461_10541561) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 10,509,120 | 10,509,205 | 10,541,461 | 10,541,561 |