esv34196
- Organism: Homo sapiens
- Study:estd50 (Giglio et al. 2002)
- Variant Type:inversion
- Method Type:FISH
- Submitted on:NCBI34 (hg16)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,865,685
- Publication(s):Giglio et al. 2002
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: 20001 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 20016 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv34196 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | - | 3,910,795 | 9,776,479 | 9,776,479 |
| esv34196 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | - | 3,912,522 | 9,778,103 | 9,778,103 |
| esv34196 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 3,860,141 | 4,380,140 | 8,825,747 | 9,528,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv7571842 | inversion | FISH | Probe signal intensity |
| essv7571843 | inversion | FISH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7571842 | Remapped | Good | NC_000004.12:g.(?_ 3910795)_(9776479_ 9776479)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | - | 3,910,795 | 9,776,479 | 9,776,479 |
| essv7571843 | Remapped | Good | NC_000004.12:g.(?_ 3910795)_(9776479_ 9776479)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | - | 3,910,795 | 9,776,479 | 9,776,479 |
| essv7571842 | Remapped | Good | NC_000004.11:g.(?_ 3912522)_(9778103_ 9778103)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | - | 3,912,522 | 9,778,103 | 9,778,103 |
| essv7571843 | Remapped | Good | NC_000004.11:g.(?_ 3912522)_(9778103_ 9778103)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | - | 3,912,522 | 9,778,103 | 9,778,103 |
| essv7571842 | Submitted genomic | NC_000004.8:g.(386 0141_4380140)_(882 5747_9528986)inv | NCBI34 (hg16) | NC_000004.8 | Chr4 | 3,860,141 | 4,380,140 | 8,825,747 | 9,528,986 | ||
| essv7571843 | Submitted genomic | NC_000004.8:g.(386 0141_4380140)_(882 5747_9528986)inv | NCBI34 (hg16) | NC_000004.8 | Chr4 | 3,860,141 | 4,380,140 | 8,825,747 | 9,528,986 |