A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3045



Internal ID9624469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..10272155hg38UCSC Ensembl
Innerchr4:9324644..10273779hg19UCSC Ensembl
Innerchr4:8933742..9882877hg18UCSC Ensembl
Innerchr4:9000913..9950048hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38949238
hg19949136
hg18949136
hg17949136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA18981
Known GenesDEFB131, DRD5, LOC650293, MIR3138, MIR548I2, SLC2A9, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WDR1
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)essv3045
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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