A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4397



Internal ID9625970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31045018..31320207hg38UCSC Ensembl
Innerchr12:31197952..31473141hg19UCSC Ensembl
Innerchr12:31089219..31364408hg18UCSC Ensembl
Innerchr12:31089219..31364408hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38275190
hg19275190
hg18275190
hg17275190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758303
Supporting Variants
SamplesNA18573
Known GenesDDX11, DDX11-AS1, FAM60A
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)essv4397
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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