A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758354



Internal ID9980431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:42394592..42539626hg38UCSC Ensembl
Innerchr14:42863795..43008829hg19UCSC Ensembl
Innerchr14:41933545..42078579hg18UCSC Ensembl
Innerchr14:41933545..42078579hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38145035
hg19145035
hg18145035
hg17145035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759984
Supporting Variantsessv2618
SamplesNA18990
Known Genes
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)esv2758354
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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