A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1340n100



Internal ID20152956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136684..2149228hg38UCSC Ensembl
chr12:2245850..2258394hg19UCSC Ensembl
chr12:2116111..2128655hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812545
hg1912545
hg1812545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035722, nsv1047329, nsv1041855, nsv1039842, nsv1051383, nsv1048216, nsv1044866, nsv1038302, nsv1048291, nsv1051637, nsv1039224, nsv1050748, nsv1052215, nsv1041140, nsv1040409
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)dgv1340n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss729
Observed Complex0
Frequencyn/a


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