esv1927955
- Organism: Homo sapiens
- Study:estd194 (Bentley et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,404
- Publication(s):Bentley et al. 2008
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: 339 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 339 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv1927955 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 19,222,774 | 19,222,911 | 19,232,059 | 19,232,177 |
| esv1927955 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 19,222,883 | 19,223,020 | 19,232,168 | 19,232,286 |
| esv1927955 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 19,258,640 | 19,258,777 | 19,267,925 | 19,268,043 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4651428 | Remapped | Perfect | NC_000005.10:g.(19 222774_19222911)_( 19232059_19232177) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 19,222,774 | 19,222,911 | 19,232,059 | 19,232,177 |
| essv4651428 | Remapped | Perfect | NC_000005.9:g.(192 22883_19223020)_(1 9232168_19232286)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 19,222,883 | 19,223,020 | 19,232,168 | 19,232,286 |
| essv4651428 | Submitted genomic | NC_000005.8:g.(192 58640_19258777)_(1 9267925_19268043)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 19,258,640 | 19,258,777 | 19,267,925 | 19,268,043 |