A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9360



Internal ID9631485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191149222..191497807hg38UCSC Ensembl
Innerchr3:190867011..191215596hg19UCSC Ensembl
Innerchr3:192349705..192698290hg18UCSC Ensembl
Innerchr3:192349713..192698298hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38348586
hg19348586
hg18348586
hg17348586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757910
Supporting Variants
SamplesNA18853
Known GenesCCDC50, OSTN, PYDC2, UTS2B
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)essv9360
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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