A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758452



Internal ID9633911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37211817..37414232hg38UCSC Ensembl
Innerchr17:35568730..35774317hg19UCSC Ensembl
Innerchr17:32642843..32848430hg18UCSC Ensembl
Innerchr17:32642843..32848430hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38202416
hg19205588
hg18205588
hg17205588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758687
Supporting Variantsessv19279
SamplesNA10838
Known GenesACACA, C17orf78, TADA2A
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)esv2758452
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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