A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2283n54



Internal ID18994459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2118145..2160422hg38UCSC Ensembl
chr12:2227311..2269588hg19UCSC Ensembl
chr12:2097572..2139849hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3842278
hg1942278
hg1842278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557040, nsv557036, nsv557041
SamplesHGDP00708, HGDP01303
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2283n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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