A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2426n54



Internal ID22770321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27779952..27780647hg38UCSC Ensembl
chr12:27932885..27933580hg19UCSC Ensembl
chr12:27824152..27824847hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38696
hg19696
hg18696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557848, nsv557840
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2426n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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