A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585924



Internal ID817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65781076..65781398hg38UCSC Ensembl
Outerchr12:65773874..65784968hg38UCSC Ensembl
Innerchr12:66174856..66175178hg19UCSC Ensembl
Outerchr12:66167654..66178748hg19UCSC Ensembl
Innerchr12:64461123..64461445hg18UCSC Ensembl
Outerchr12:64453921..64465015hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3811095
hg1911095
hg1811095
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275418
Supporting Variants
Samples
Known GenesRPSAP52
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585924
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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