esv9313
- 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: 306 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 189 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv9313 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 16,564,605 | 16,564,660 | 16,564,762 | 16,564,821 |
| esv9313 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 17,936,925 | 17,936,980 | 17,937,082 | 17,937,141 |
| esv9313 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 16,858,796 | 16,858,851 | 16,858,953 | 16,859,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv31754 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv31754 | Remapped | Perfect | NC_000021.9:g.(165 64605_16564660)_(1 6564762_16564821)d up | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 16,564,605 | 16,564,660 | 16,564,762 | 16,564,821 |
| essv31754 | Remapped | Perfect | NC_000021.8:g.(179 36925_17936980)_(1 7937082_17937141)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 17,936,925 | 17,936,980 | 17,937,082 | 17,937,141 |
| essv31754 | Submitted genomic | NC_000021.7:g.(168 58796_16858851)_(1 6858953_16859012)d up | NCBI36 (hg18) | NC_000021.7 | Chr21 | 16,858,796 | 16,858,851 | 16,858,953 | 16,859,012 |