A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757941



Internal ID9633400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76343443..76496304hg38UCSC Ensembl
Innerchr4:77264596..77417457hg19UCSC Ensembl
Innerchr4:77483620..77636481hg18UCSC Ensembl
Innerchr4:77621775..77774636hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38152862
hg19152862
hg18152862
hg17152862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759262
Supporting Variantsessv18080
SamplesNA12145
Known GenesCCDC158, SHROOM3
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)esv2757941
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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