esv3829502
- 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:92,897
- 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: 327 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 53 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3829502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 19,815,439 (-500, +0) | 19,908,335 (-0, +500) |
esv3829502 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 19,856,931 (-500, +0) | 19,949,827 (-0, +500) |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv18213919 | Remapped | Perfect | NC_000003.12:g.(19 814939_19815439)_( 19908335_19908835) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 19,815,439 (-500, +0) | 19,908,335 (-0, +500) |
essv18213919 | Submitted genomic | NC_000003.11:g.(19 856431_19856931)_( 19949827_19950327) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 19,856,931 (-500, +0) | 19,949,827 (-0, +500) |