A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2427n54



Internal ID22770322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27779963..27780804hg38UCSC Ensembl
chr12:27932896..27933737hg19UCSC Ensembl
chr12:27824163..27825004hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38842
hg19842
hg18842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557850, nsv557849, nsv557847
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2427n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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