esv7009
- 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: 256 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 132 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7009 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 241,614,717 | 241,614,775 | 241,614,875 | 241,614,932 |
| esv7009 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 241,778,019 | 241,778,077 | 241,778,177 | 241,778,234 |
| esv7009 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 239,844,642 | 239,844,700 | 239,844,800 | 239,844,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29450 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29450 | Remapped | Perfect | NC_000001.11:g.(24 1614717_241614775) _(241614875_241614 932)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 241,614,717 | 241,614,775 | 241,614,875 | 241,614,932 |
| essv29450 | Remapped | Perfect | NC_000001.10:g.(24 1778019_241778077) _(241778177_241778 234)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 241,778,019 | 241,778,077 | 241,778,177 | 241,778,234 |
| essv29450 | Submitted genomic | NC_000001.9:g.(239 844642_239844700)_ (239844800_2398448 57)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 239,844,642 | 239,844,700 | 239,844,800 | 239,844,857 |