esv7521
- 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:33,356
- 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: 994 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 994 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7521 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,286 | 1,580,344 | 1,613,587 | 1,613,641 |
| esv7521 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,560,932 | 1,560,990 | 1,594,233 | 1,594,287 |
| esv7521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 1,508,932 | 1,508,990 | 1,542,233 | 1,542,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29962 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29962 | Remapped | Perfect | NC_000020.11:g.(15 80286_1580344)_(16 13587_1613641)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,286 | 1,580,344 | 1,613,587 | 1,613,641 |
| essv29962 | Remapped | Perfect | NC_000020.10:g.(15 60932_1560990)_(15 94233_1594287)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,560,932 | 1,560,990 | 1,594,233 | 1,594,287 |
| essv29962 | Submitted genomic | NC_000020.9:g.(150 8932_1508990)_(154 2233_1542287)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,508,932 | 1,508,990 | 1,542,233 | 1,542,287 |