A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758181



Internal ID9633640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12235048..12621991hg38UCSC Ensembl
Innerchr9:12235048..12621991hg19UCSC Ensembl
Innerchr9:12225048..12611991hg18UCSC Ensembl
Innerchr9:12225048..12611991hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38386944
hg19386944
hg18386944
hg17386944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759671
Supporting Variantsessv18757, essv10083
SamplesNA19130, NA12874
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)esv2758181
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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