esv5457
- 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:19,510
- 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: 176 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 149,332,928 | 149,333,132 | 149,352,190 | 149,352,437 |
| esv5457 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 150,189,442 | 150,189,646 | 150,208,704 | 150,208,951 |
| esv5457 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 149,897,688 | 149,897,892 | 149,916,950 | 149,917,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv27898 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv27898 | Remapped | Perfect | NC_000002.12:g.(14 9332928_149333132) _(149352190_149352 437)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 149,332,928 | 149,333,132 | 149,352,190 | 149,352,437 |
| essv27898 | Remapped | Perfect | NC_000002.11:g.(15 0189442_150189646) _(150208704_150208 951)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 150,189,442 | 150,189,646 | 150,208,704 | 150,208,951 |
| essv27898 | Submitted genomic | NC_000002.10:g.(14 9897688_149897892) _(149916950_149917 197)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 149,897,688 | 149,897,892 | 149,916,950 | 149,917,197 |