A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1556n100



Internal ID19011924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111732560..111876898hg38UCSC Ensembl
chr12:112170364..112314702hg19UCSC Ensembl
chr12:110654747..110799085hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38144339
hg19144339
hg18144339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055117, nsv1048119, nsv1040194, nsv1049766, nsv1054029, nsv1053314, nsv1049621, nsv1045713, nsv1046700, nsv1053399, nsv1051905, nsv1043172, nsv1052607, nsv1042745
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1556n100
Frequency
Sample Size29084
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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