esv3878319
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,308
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 266 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3878319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 83,061,798 (-1000, +500) | 83,079,105 (-500, +1000) |
esv3878319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 83,095,403 (-1000, +500) | 83,112,710 (-500, +1000) |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv24084950 | Remapped | Perfect | NC_000016.10:g.(83 060798_83062298)_( 83078605_83080105) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 83,061,798 (-1000, +500) | 83,079,105 (-500, +1000) |
essv24084950 | Submitted genomic | NC_000016.9:g.(830 94403_83095903)_(8 3112210_83113710)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 83,095,403 (-1000, +500) | 83,112,710 (-500, +1000) |