A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17483



Internal ID9959895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:155953687..156188888hg38UCSC Ensembl
Innerchr5:155380697..155615898hg19UCSC Ensembl
Innerchr5:155313275..155548476hg18UCSC Ensembl
Innerchr5:155313275..155548476hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38235202
hg19235202
hg18235202
hg17235202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758023
Supporting Variants
SamplesNA12762
Known Genes
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)essv17483
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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