A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3390



Internal ID9624852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150720442..150879619hg38UCSC Ensembl
Innerchr5:150100004..150259181hg19UCSC Ensembl
Innerchr5:150080197..150239374hg18UCSC Ensembl
Innerchr5:150080197..150239374hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38159178
hg19159178
hg18159178
hg17159178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758021
Supporting Variants
SamplesNA18945
Known GenesDCTN4, IRGM, SMIM3
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)essv3390
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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