A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2846n54



Internal ID22770741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106247203..106248612hg38UCSC Ensembl
chr12:106640981..106642390hg19UCSC Ensembl
chr12:105165111..105166520hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560065, nsv560071
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2846n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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