A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758199



Internal ID9633658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:120885919..121080717hg38UCSC Ensembl
Innerchr9:123648197..123842995hg19UCSC Ensembl
Innerchr9:122688018..122882816hg18UCSC Ensembl
Innerchr9:120727751..120922549hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38194799
hg19194799
hg18194799
hg17194799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759713
Supporting Variantsessv2463
SamplesNA18999
Known GenesC5, PHF19, TRAF1
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)esv2758199
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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