A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2421n54



Internal ID22770316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27776841..27780909hg38UCSC Ensembl
chr12:27929774..27933842hg19UCSC Ensembl
chr12:27821041..27825109hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384069
hg194069
hg184069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557826, nsv557828, nsv557827, nsv557825
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2421n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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