esv3692515
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,139
- Publication(s):Pettigrew et al. 2015
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: 401 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 71 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3692515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,544,380 | 72,545,760 | 72,613,470 | 72,620,518 |
esv3692515 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 73,010,063 | 73,011,443 | 73,079,153 | 73,086,201 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16506787 | deletion | FR-39 | SNP array | SNP genotyping analysis | 39 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16506787 | Remapped | Perfect | NC_000001.11:g.(72 544380_72545760)_( 72613470_72620518) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,544,380 | 72,545,760 | 72,613,470 | 72,620,518 |
essv16506787 | Submitted genomic | NC_000001.10:g.(73 010063_73011443)_( 73079153_73086201) del67710 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,010,063 | 73,011,443 | 73,079,153 | 73,086,201 |