A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5453



Internal ID9627144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76887185..77058991hg38UCSC Ensembl
Innerchr9:79502101..79673907hg19UCSC Ensembl
Innerchr9:78691921..78863727hg18UCSC Ensembl
Innerchr9:76731655..76903461hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38171807
hg19171807
hg18171807
hg17171807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758190
Supporting Variants
SamplesNA18632
Known GenesFOXB2, PRUNE2
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)essv5453
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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