A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1522



Internal ID9612803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..9442596hg38UCSC Ensembl
Innerchr4:9324644..9444322hg19UCSC Ensembl
Innerchr4:8933742..9053420hg18UCSC Ensembl
Innerchr4:9000913..9120591hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38119679
hg19119679
hg18119679
hg17119679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA18980
Known GenesUSP17L10, 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)essv1522
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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