A curated catalogue of human genomic structural variation




Variant Details

Variant: essv70



Internal ID9971638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60929127..61102438hg38UCSC Ensembl
Innerchr4:61794845..61968156hg19UCSC Ensembl
Innerchr4:61477440..61650751hg18UCSC Ensembl
Innerchr4:61623611..61796922hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38173312
hg19173312
hg18173312
hg17173312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757938
Supporting Variants
SamplesNA18991
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)essv70
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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