esv34195
- 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:4,944,699
- 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: 17926 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 17926 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv34195 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 7,068,450 | 7,068,450 | 12,013,148 | 12,013,148 |
| esv34195 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 6,925,972 | 6,925,972 | 11,870,657 | 11,870,657 |
| esv34195 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000008.8 | Chr8 | 6,913,382 | 8,103,381 | 9,528,986 | 11,908,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv7571844 | inversion | FISH | Probe signal intensity |
| essv7571845 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7571844 | Remapped | Good | NC_000008.11:g.(70 68450_7068450)_(12 013148_12013148)in v | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,068,450 | 7,068,450 | 12,013,148 | 12,013,148 |
| essv7571845 | Remapped | Good | NC_000008.11:g.(70 68450_7068450)_(12 013148_12013148)in v | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,068,450 | 7,068,450 | 12,013,148 | 12,013,148 |
| essv7571844 | Remapped | Good | NC_000008.10:g.(69 25972_6925972)_(11 870657_11870657)in v | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 6,925,972 | 6,925,972 | 11,870,657 | 11,870,657 |
| essv7571845 | Remapped | Good | NC_000008.10:g.(69 25972_6925972)_(11 870657_11870657)in v | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 6,925,972 | 6,925,972 | 11,870,657 | 11,870,657 |
| essv7571844 | Submitted genomic | NC_000008.8:g.(691 3382_8103381)_(952 8986_11908066)inv | NCBI34 (hg16) | NC_000008.8 | Chr8 | 6,913,382 | 8,103,381 | 9,528,986 | 11,908,066 | ||
| essv7571845 | Submitted genomic | NC_000008.8:g.(691 3382_8103381)_(952 8986_11908066)inv | NCBI34 (hg16) | NC_000008.8 | Chr8 | 6,913,382 | 8,103,381 | 9,528,986 | 11,908,066 |