esv6128
- 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:44,065
- 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: 3028 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3028 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1953 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,480,763 | 32,480,959 | 32,524,738 | 32,524,827 |
| esv6128 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,448,540 | 32,448,736 | 32,492,515 | 32,492,604 |
| esv6128 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,556,518 | 32,556,714 | 32,600,493 | 32,600,582 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28569 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28569 | Remapped | Perfect | NC_000006.12:g.(32 480763_32480959)_( 32524738_32524827) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,480,763 | 32,480,959 | 32,524,738 | 32,524,827 |
| essv28569 | Remapped | Perfect | NC_000006.11:g.(32 448540_32448736)_( 32492515_32492604) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,448,540 | 32,448,736 | 32,492,515 | 32,492,604 |
| essv28569 | Submitted genomic | NC_000006.10:g.(32 556518_32556714)_( 32600493_32600582) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,556,518 | 32,556,714 | 32,600,493 | 32,600,582 |