A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1344n100



Internal ID19011712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2673632..2740600hg38UCSC Ensembl
chr12:2782798..2849766hg19UCSC Ensembl
chr12:2653059..2720027hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3866969
hg1966969
hg1866969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045522, nsv1039266
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1344n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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