A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4447



Internal ID9963795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:115764220..116042717hg38UCSC Ensembl
Innerchr2:116521796..116800293hg19UCSC Ensembl
Innerchr2:116238266..116516763hg18UCSC Ensembl
Innerchr2:116238026..116516523hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38278498
hg19278498
hg18278498
hg17278498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757828
Supporting Variants
SamplesNA18552
Known GenesDPP10
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)essv4447
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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