esv6412
- 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: 166 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 54 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 84,580,391 | 84,580,455 | 84,580,543 | 84,580,606 |
| esv6412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 84,209,707 | 84,209,771 | 84,209,859 | 84,209,922 |
| esv6412 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 84,047,643 | 84,047,707 | 84,047,795 | 84,047,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28853 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28853 | Remapped | Perfect | NC_000007.14:g.(84 580391_84580455)_( 84580543_84580606) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,580,391 | 84,580,455 | 84,580,543 | 84,580,606 |
| essv28853 | Remapped | Perfect | NC_000007.13:g.(84 209707_84209771)_( 84209859_84209922) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 84,209,707 | 84,209,771 | 84,209,859 | 84,209,922 |
| essv28853 | Submitted genomic | NC_000007.12:g.(84 047643_84047707)_( 84047795_84047858) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 84,047,643 | 84,047,707 | 84,047,795 | 84,047,858 |