A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7068



Internal ID9628938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2149914..2494823hg38UCSC Ensembl
Innerchr20:2130560..2475469hg19UCSC Ensembl
Innerchr20:2078560..2423469hg18UCSC Ensembl
Innerchr20:2078560..2423469hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38344910
hg19344910
hg18344910
hg17344910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758510
Supporting Variants
SamplesNA18537
Known GenesSNORD119, SNRPB, TGM3, TGM6, ZNF343
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)essv7068
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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