A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3438n100



Internal ID19013806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13305356..13403542hg38UCSC Ensembl
chr19:13416170..13514356hg19UCSC Ensembl
chr19:13277170..13375356hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg3898187
hg1998187
hg1898187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059521, nsv1058784
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3438n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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