A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18599



Internal ID9616556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..9512919hg38UCSC Ensembl
Innerchr4:9324644..9514568hg19UCSC Ensembl
Innerchr4:8933742..9123666hg18UCSC Ensembl
Innerchr4:9000913..9190837hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38190002
hg19189925
hg18189925
hg17189925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA12234
Known GenesDEFB131, LOC650293, 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)essv18599
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer