A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758013



Internal ID9980090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118329030..118606552hg38UCSC Ensembl
Innerchr5:117664725..117942247hg19UCSC Ensembl
Innerchr5:117692624..117970146hg18UCSC Ensembl
Innerchr5:117692624..117970146hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38277523
hg19277523
hg18277523
hg17277523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759373
Supporting Variantsessv20576
SamplesNA07056
Known GenesLOC101927280, LOC102467225
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)esv2758013
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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