A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2286n54



Internal ID18994462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136470..2146161hg38UCSC Ensembl
chr12:2245636..2255327hg19UCSC Ensembl
chr12:2115897..2125588hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389692
hg199692
hg189692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557066, nsv557057, nsv557062, nsv557049
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2286n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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