A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2453



Internal ID9623147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143427140..143737008hg38UCSC Ensembl
Innerchr4:144348293..144658161hg19UCSC Ensembl
Innerchr4:144567743..144877611hg18UCSC Ensembl
Innerchr4:144705898..145015766hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38309869
hg19309869
hg18309869
hg17309869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757960
Supporting Variants
SamplesNA18999
Known GenesFREM3, GAB1, GUSBP5, SMARCA5, SMARCA5-AS1
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)essv2453
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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