A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16551



Internal ID9614282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112478174..112885237hg38UCSC Ensembl
Innerchr9:115240454..115647517hg19UCSC Ensembl
Innerchr9:114280275..114687338hg18UCSC Ensembl
Innerchr9:112320009..112727072hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38407064
hg19407064
hg18407064
hg17407064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758198
Supporting Variants
SamplesNA19210
Known GenesINIP, KIAA1958, SLC46A2, SNX30
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)essv16551
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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