A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758015



Internal ID9980092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129260045..129499159hg38UCSC Ensembl
Innerchr5:128595738..128834852hg19UCSC Ensembl
Innerchr5:128623637..128862751hg18UCSC Ensembl
Innerchr5:128623637..128862751hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38239115
hg19239115
hg18239115
hg17239115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759377
Supporting Variantsessv23259, essv24827
SamplesNA07029, NA07000
Known GenesADAMTS19, MIR4460
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)esv2758015
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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