A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758160



Internal ID9633619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53920430..54104405hg38UCSC Ensembl
Innerchr8:54832990..55016965hg19UCSC Ensembl
Innerchr8:54995543..55179518hg18UCSC Ensembl
Innerchr8:54995543..55179518hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38183976
hg19183976
hg18183976
hg17183976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759617
Supporting Variantsessv22151
SamplesNA10857
Known GenesLYPLA1, RGS20, TCEA1
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)esv2758160
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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