A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7179



Internal ID9629061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135829912..136139310hg38UCSC Ensembl
Innerchr5:135165601..135474999hg19UCSC Ensembl
Innerchr5:135193500..135502898hg18UCSC Ensembl
Innerchr5:135193500..135502898hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38309399
hg19309399
hg18309399
hg17309399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758018
Supporting Variants
SamplesNA18547
Known GenesFBXL21, IL9, LECT2, SLC25A48, SMAD5, SMAD5-AS1, TGFBI, VTRNA2-1
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)essv7179
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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