A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1346n100



Internal ID19011714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4285922..4299636hg38UCSC Ensembl
chr12:4395088..4408802hg19UCSC Ensembl
chr12:4265349..4279063hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813715
hg1913715
hg1813715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035984, nsv1035841, nsv1037515, nsv1053259, nsv1054861, nsv1042204
Samples
Known GenesCCND2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1346n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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