A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9386



Internal ID9631513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150720442..150906180hg38UCSC Ensembl
Innerchr5:150100004..150285742hg19UCSC Ensembl
Innerchr5:150080197..150265935hg18UCSC Ensembl
Innerchr5:150080197..150265935hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38185739
hg19185739
hg18185739
hg17185739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758021
Supporting Variants
SamplesNA18853
Known GenesDCTN4, IRGM, SMIM3, ZNF300
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)essv9386
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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