A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1339n100



Internal ID19011707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2120846..2151588hg38UCSC Ensembl
chr12:2230012..2260754hg19UCSC Ensembl
chr12:2100273..2131015hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3830743
hg1930743
hg1830743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049985, nsv1044373, nsv1039310, nsv1041632, nsv1045863, nsv1042716, nsv1054901, nsv1036646, nsv1046854
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)dgv1339n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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