esv8308
- 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:226
- 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: 137 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv8308 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 109,001,272 | 109,001,341 | 109,001,419 | 109,001,497 |
| esv8308 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 109,922,428 | 109,922,497 | 109,922,575 | 109,922,653 |
| esv8308 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 110,141,877 | 110,141,946 | 110,142,024 | 110,142,102 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30749 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30749 | Remapped | Perfect | NC_000004.12:g.(10 9001272_109001341) _(109001419_109001 497)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 109,001,272 | 109,001,341 | 109,001,419 | 109,001,497 |
| essv30749 | Remapped | Perfect | NC_000004.11:g.(10 9922428_109922497) _(109922575_109922 653)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 109,922,428 | 109,922,497 | 109,922,575 | 109,922,653 |
| essv30749 | Submitted genomic | NC_000004.10:g.(11 0141877_110141946) _(110142024_110142 102)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 110,141,877 | 110,141,946 | 110,142,024 | 110,142,102 |