A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6193



Internal ID9627966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114427189..114669169hg38UCSC Ensembl
Innerchr4:115348345..115590325hg19UCSC Ensembl
Innerchr4:115567794..115809774hg18UCSC Ensembl
Innerchr4:115705949..115947929hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38241981
hg19241981
hg18241981
hg17241981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757949
Supporting Variants
SamplesNA18532
Known GenesMIR577, UGT8
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)essv6193
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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