A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2844n54



Internal ID22770739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106247203..106248444hg38UCSC Ensembl
chr12:106640981..106642222hg19UCSC Ensembl
chr12:105165111..105166352hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381242
hg191242
hg181242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560063, nsv560069, nsv560064
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2844n54
Frequency
Sample Size17421
Observed Gain25
Observed Loss3
Observed Complex0
Frequencyn/a


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