A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759336



Internal ID9634795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31296170..31470021hg38UCSC Ensembl
Innerchr5:31296277..31470128hg19UCSC Ensembl
Innerchr5:31332034..31505885hg18UCSC Ensembl
Innerchr5:31332034..31505885hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38173852
hg19173852
hg18173852
hg17173852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757991
SamplesNA19003
Known GenesCDH6, DROSHA
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759336
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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