A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585164



Internal ID57
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112849163..112849893hg38UCSC Ensembl
Outerchr12:112844335..112850987hg38UCSC Ensembl
Innerchr12:113286968..113287698hg19UCSC Ensembl
Outerchr12:113282140..113288792hg19UCSC Ensembl
Innerchr12:111771351..111772081hg18UCSC Ensembl
Outerchr12:111766523..111773175hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386653
hg196653
hg186653
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275176
Supporting Variants
Samples
Known GenesRPH3A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585164
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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