A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2912e59



Internal ID18988413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1223964..1225262hg38UCSC Ensembl
chr4:1217752..1219050hg19UCSC Ensembl
chr4:1207752..1209050hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3380231, esv3411014
SamplesNA19239, NA19240
Known GenesCTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2912e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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