A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5331



Internal ID9627009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35200339..35323225hg38UCSC Ensembl
Innerchr6:35168116..35291002hg19UCSC Ensembl
Innerchr6:35276094..35398980hg18UCSC Ensembl
Innerchr6:35276094..35398980hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38122887
hg19122887
hg18122887
hg17122887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758047
Supporting Variants
SamplesNA18563
Known GenesDEF6, SCUBE3, ZNF76
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)essv5331
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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