A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4262



Internal ID9625821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69778293..70347472hg38UCSC Ensembl
Innerchr5:69074120..69643299hg19UCSC Ensembl
Innerchr5:69109876..69679055hg18UCSC Ensembl
Innerchr5:69109876..69679055hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38569180
hg19569180
hg18569180
hg17569180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757998
Supporting Variants
SamplesNA18603
Known GenesGUSBP9, SERF1A, SERF1B, SMA4, SMN1, SMN2
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)essv4262
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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