A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2280n54



Internal ID18994456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2105526..2107792hg38UCSC Ensembl
chr12:2214692..2216958hg19UCSC Ensembl
chr12:2084953..2087219hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382267
hg192267
hg182267
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557023, nsv557029, nsv557024, nsv557016
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2280n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss66
Observed Complex0
Frequencyn/a


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