A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757979



Internal ID9633438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3576505..3787400hg38UCSC Ensembl
Innerchr5:3576619..3787514hg19UCSC Ensembl
Innerchr5:3629619..3840514hg18UCSC Ensembl
Innerchr5:3629619..3840514hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38210896
hg19210896
hg18210896
hg17210896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759317
Supporting Variantsessv4162, essv5066, essv9980, essv17326
SamplesNA18856, NA19099, NA18555, NA18576
Known GenesIRX1
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)esv2757979
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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