A curated catalogue of human genomic structural variation




Variant Details

Variant: essv879



Internal ID9630850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3392617..3572018hg38UCSC Ensembl
Innerchr4:3394344..3573745hg19UCSC Ensembl
Innerchr4:3364142..3543543hg18UCSC Ensembl
Innerchr4:3431313..3610714hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38179402
hg19179402
hg18179402
hg17179402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757918
Supporting Variants
SamplesNA19000
Known GenesDOK7, HGFAC, LRPAP1, RGS12
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)essv879
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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