esv7090
- 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:216
- 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: 344 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 112,645,220 | 112,645,274 | 112,645,362 | 112,645,435 |
| esv7090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 113,299,534 | 113,299,588 | 113,299,676 | 113,299,749 |
| esv7090 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 112,347,535 | 112,347,589 | 112,347,677 | 112,347,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29531 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29531 | Remapped | Perfect | NC_000013.11:g.(11 2645220_112645274) _(112645362_112645 435)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 112,645,220 | 112,645,274 | 112,645,362 | 112,645,435 |
| essv29531 | Remapped | Perfect | NC_000013.10:g.(11 3299534_113299588) _(113299676_113299 749)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 113,299,534 | 113,299,588 | 113,299,676 | 113,299,749 |
| essv29531 | Submitted genomic | NC_000013.9:g.(112 347535_112347589)_ (112347677_1123477 50)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 112,347,535 | 112,347,589 | 112,347,677 | 112,347,750 |