A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21689



Internal ID9619990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32011912..32203394hg38UCSC Ensembl
Innerchr5:32012018..32203500hg19UCSC Ensembl
Innerchr5:32047775..32239257hg18UCSC Ensembl
Innerchr5:32047775..32239257hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38191483
hg19191483
hg18191483
hg17191483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757992
Supporting Variants
SamplesNA12248
Known GenesGOLPH3, PDZD2
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)essv21689
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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