A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23898



Internal ID9622444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..9617834hg38UCSC Ensembl
Innerchr4:9324644..9619458hg19UCSC Ensembl
Innerchr4:8933742..9228556hg18UCSC Ensembl
Innerchr4:9000913..9295727hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38294917
hg19294815
hg18294815
hg17294815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA12814
Known GenesDEFB131, LOC650293, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)essv23898
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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