A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585464



Internal ID347043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17692096..17692463hg38UCSC Ensembl
Outerchr12:17690312..17715299hg38UCSC Ensembl
Innerchr12:17845030..17845397hg19UCSC Ensembl
Outerchr12:17843246..17868233hg19UCSC Ensembl
Innerchr12:17736297..17736664hg18UCSC Ensembl
Outerchr12:17734513..17759500hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3824988
hg1924988
hg1824988
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275587
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585464
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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