A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11113



Internal ID9608241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112575421..113240671hg38UCSC Ensembl
Innerchr9:115337701..116002951hg19UCSC Ensembl
Innerchr9:114377522..115042772hg18UCSC Ensembl
Innerchr9:112417256..113082505hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38665251
hg19665251
hg18665251
hg17665250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758198
Supporting Variants
SamplesNA19211
Known GenesFAM225A, FAM225B, FKBP15, INIP, KIAA1958, SLC31A1, SLC31A2, SLC46A2, SNX30, ZFP37, ZNF883
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)essv11113
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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