A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2428n54



Internal ID22770323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27780118..27780963hg38UCSC Ensembl
chr12:27933051..27933896hg19UCSC Ensembl
chr12:27824318..27825163hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38846
hg19846
hg18846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557857, nsv557855, nsv557856
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2428n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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