A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1342n100



Internal ID19011710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136684..2163698hg38UCSC Ensembl
chr12:2245850..2272864hg19UCSC Ensembl
chr12:2116111..2143125hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3827015
hg1927015
hg1827015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052758, nsv1043538, nsv1047124, nsv1037937
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1342n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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