esv1914954
- Organism: Homo sapiens
- Study:estd193 (Feuk et al. 2005)
- Variant Type:inversion
- Method Type:FISH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:707,446
- Publication(s):Feuk et al. 2005
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: 3385 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3385 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 11 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv1914954 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,997,691 | 6,705,136 |
esv1914954 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 6,037,322 | 6,744,767 |
esv1914954 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 5,810,563 | 6,518,007 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv4491061 | inversion | FISH | Manual observation |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv4491061 | Remapped | Perfect | NC_000007.14:g.(59 97691_?)_(?_670513 6)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,997,691 | 6,705,136 |
essv4491061 | Remapped | Perfect | NC_000007.13:g.(60 37322_?)_(?_674476 7)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,037,322 | 6,744,767 |
essv4491061 | Submitted genomic | NC_000007.11:g.(58 10563_?)_(?_651800 7)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 5,810,563 | 6,518,007 |