esv8395
- 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:217
- 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: 239 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 126 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv8395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 19,654,237 | 19,654,302 | 19,654,394 | 19,654,453 |
| esv8395 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 19,654,346 | 19,654,411 | 19,654,503 | 19,654,562 |
| esv8395 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 19,690,103 | 19,690,168 | 19,690,260 | 19,690,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30836 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30836 | Remapped | Perfect | NC_000005.10:g.(19 654237_19654302)_( 19654394_19654453) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 19,654,237 | 19,654,302 | 19,654,394 | 19,654,453 |
| essv30836 | Remapped | Perfect | NC_000005.9:g.(196 54346_19654411)_(1 9654503_19654562)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 19,654,346 | 19,654,411 | 19,654,503 | 19,654,562 |
| essv30836 | Submitted genomic | NC_000005.8:g.(196 90103_19690168)_(1 9690260_19690319)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 19,690,103 | 19,690,168 | 19,690,260 | 19,690,319 |