esv6551
- 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:13,187
- 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: 447 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 55,146,038 | 55,146,302 | 55,159,131 | 55,159,224 |
| esv6551 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 55,172,471 | 55,172,735 | 55,185,564 | 55,185,657 |
| esv6551 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 55,189,196 | 55,189,460 | 55,202,289 | 55,202,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28992 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28992 | Remapped | Perfect | NC_000023.11:g.(55 146038_55146302)_( 55159131_55159224) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 55,146,038 | 55,146,302 | 55,159,131 | 55,159,224 |
| essv28992 | Remapped | Perfect | NC_000023.10:g.(55 172471_55172735)_( 55185564_55185657) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 55,172,471 | 55,172,735 | 55,185,564 | 55,185,657 |
| essv28992 | Submitted genomic | NC_000023.9:g.(551 89196_55189460)_(5 5202289_55202382)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 55,189,196 | 55,189,460 | 55,202,289 | 55,202,382 |