A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1452



Internal ID9612025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:198357..577691hg38UCSC Ensembl
Innerchr6:198357..577691hg19UCSC Ensembl
Innerchr6:143357..522691hg18UCSC Ensembl
Innerchr6:143357..522691hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38379335
hg19379335
hg18379335
hg17379335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758034
Supporting Variants
SamplesNA18944
Known GenesDUSP22, EXOC2, IRF4
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)essv1452
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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