A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1940



Internal ID9969657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:153702453..153913353hg38UCSC Ensembl
Innerchr5:153082013..153292913hg19UCSC Ensembl
Innerchr5:153062206..153273106hg18UCSC Ensembl
Innerchr5:153062206..153273106hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38210901
hg19210901
hg18210901
hg17210901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758022
Supporting Variants
SamplesNA18959
Known GenesGRIA1
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)essv1940
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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