A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2344n54



Internal ID22770239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9398779..9577831hg38UCSC Ensembl
chr12:9551375..9730427hg19UCSC Ensembl
chr12:9442642..9621694hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38179053
hg19179053
hg18179053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557379, nsv557362, nsv557393, nsv557383, nsv557394, nsv557369, nsv557392, nsv557395, nsv557389, nsv557386, nsv557357, nsv557391, nsv557390
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2344n54
Frequency
Sample Size17421
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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