esv7139
- 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:227
- 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: 133 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7139 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 61,329,336 | 61,329,403 | 61,329,493 | 61,329,562 |
| esv7139 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 59,904,392 | 59,904,459 | 59,904,549 | 59,904,618 |
| esv7139 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 59,337,787 | 59,337,854 | 59,337,944 | 59,338,013 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29580 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29580 | Remapped | Perfect | NC_000020.11:g.(61 329336_61329403)_( 61329493_61329562) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 61,329,336 | 61,329,403 | 61,329,493 | 61,329,562 |
| essv29580 | Remapped | Perfect | NC_000020.10:g.(59 904392_59904459)_( 59904549_59904618) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 59,904,392 | 59,904,459 | 59,904,549 | 59,904,618 |
| essv29580 | Submitted genomic | NC_000020.9:g.(593 37787_59337854)_(5 9337944_59338013)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 59,337,787 | 59,337,854 | 59,337,944 | 59,338,013 |