A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1398



Internal ID9972513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123290071..124458192hg38UCSC Ensembl
Innerchr4:124211226..125379347hg19UCSC Ensembl
Innerchr4:124430676..125598797hg18UCSC Ensembl
Innerchr4:124568831..125736952hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381168122
hg191168122
hg181168122
hg171168122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757953
Supporting Variants
SamplesNA19007
Known GenesLINC01091, SPATA5, SPRY1
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)essv1398
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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