esv7863
- 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:219
- 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: 122 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7863 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 83,220,277 | 83,220,340 | 83,220,428 | 83,220,495 |
| esv7863 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 85,835,192 | 85,835,255 | 85,835,343 | 85,835,410 |
| esv7863 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 85,025,012 | 85,025,075 | 85,025,163 | 85,025,230 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30304 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30304 | Remapped | Perfect | NC_000009.12:g.(83 220277_83220340)_( 83220428_83220495) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 83,220,277 | 83,220,340 | 83,220,428 | 83,220,495 |
| essv30304 | Remapped | Perfect | NC_000009.11:g.(85 835192_85835255)_( 85835343_85835410) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 85,835,192 | 85,835,255 | 85,835,343 | 85,835,410 |
| essv30304 | Submitted genomic | NC_000009.10:g.(85 025012_85025075)_( 85025163_85025230) dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 85,025,012 | 85,025,075 | 85,025,163 | 85,025,230 |