A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17933



Internal ID9615817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100050267..100510551hg38UCSC Ensembl
Innerchr5:99385971..99846255hg19UCSC Ensembl
Innerchr5:99413870..99874154hg18UCSC Ensembl
Innerchr5:99413870..99874154hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38460285
hg19460285
hg18460285
hg17460285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758006
Supporting Variants
SamplesNA12003
Known GenesLOC100133050
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)essv17933
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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