A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9718



Internal ID9631882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30972532..31338170hg38UCSC Ensembl
Innerchr12:31125467..31491104hg19UCSC Ensembl
Innerchr12:31016734..31382371hg18UCSC Ensembl
Innerchr12:31016734..31382371hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38365639
hg19365638
hg18365638
hg17365638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758303
Supporting Variants
SamplesNA18913
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224, TSPAN11
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)essv9718
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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