A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2275n54



Internal ID18994451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2053203..2056790hg38UCSC Ensembl
chr12:2162369..2165956hg19UCSC Ensembl
chr12:2032630..2036217hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383588
hg193588
hg183588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557008, nsv557007
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2275n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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