A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2806n54



Internal ID20136230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96194111..96195063hg38UCSC Ensembl
chr12:96587889..96588841hg19UCSC Ensembl
chr12:95112020..95112972hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559843, nsv559845
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2806n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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