A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2788



Internal ID9624182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21537258hg38UCSC Ensembl
Innerchr5:21149153..21537367hg19UCSC Ensembl
Innerchr5:21184910..21573124hg18UCSC Ensembl
Innerchr5:21184910..21573124hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38388215
hg19388215
hg18388215
hg17388215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757988
Supporting Variants
SamplesNA18987
Known GenesGUSBP1
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)essv2788
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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