A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2287n54



Internal ID18994463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136470..2149783hg38UCSC Ensembl
chr12:2245636..2258949hg19UCSC Ensembl
chr12:2115897..2129210hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3813314
hg1913314
hg1813314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557055, nsv557059, nsv557050, nsv557065, nsv557069, nsv557060, nsv557067, nsv557056, nsv557058, nsv557068, nsv557064, nsv557063, nsv557051
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2287n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss115
Observed Complex0
Frequencyn/a


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