A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759347



Internal ID9634806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67062097..67255051hg38UCSC Ensembl
Innerchr5:66357925..66550879hg19UCSC Ensembl
Innerchr5:66393681..66586635hg18UCSC Ensembl
Innerchr5:66393681..66586635hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38192955
hg19192955
hg18192955
hg17192955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757997
SamplesNA19193
Known GenesCD180, MAST4
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)esv2759347
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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