esv6946
- 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:223
- 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: 271 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,699,195 | 10,699,260 | 10,699,357 | 10,699,417 |
| esv6946 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 10,700,819 | 10,700,884 | 10,700,981 | 10,701,041 |
| esv6946 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 10,309,917 | 10,309,982 | 10,310,079 | 10,310,139 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29387 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29387 | Remapped | Perfect | NC_000004.12:g.(10 699195_10699260)_( 10699357_10699417) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,699,195 | 10,699,260 | 10,699,357 | 10,699,417 |
| essv29387 | Remapped | Perfect | NC_000004.11:g.(10 700819_10700884)_( 10700981_10701041) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,700,819 | 10,700,884 | 10,700,981 | 10,701,041 |
| essv29387 | Submitted genomic | NC_000004.10:g.(10 309917_10309982)_( 10310079_10310139) dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 10,309,917 | 10,309,982 | 10,310,079 | 10,310,139 |