A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3223e59



Internal ID22764443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11239840..11241338hg38UCSC Ensembl
chr5:11239952..11241450hg19UCSC Ensembl
chr5:11292952..11294450hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3385685, esv3380372
SamplesNA19238, NA19239
Known GenesCTNND2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3223e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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