A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759223



Internal ID9634682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10342075..10544176hg38UCSC Ensembl
Innerchr4:10343699..10545800hg19UCSC Ensembl
Innerchr4:9952797..10154898hg18UCSC Ensembl
Innerchr4:10019968..10222069hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38202102
hg19202102
hg18202102
hg17202102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757921
SamplesNA12236
Known GenesCLNK, ZNF518B
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)esv2759223
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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