A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5592



Internal ID9963075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13262211..13647951hg38UCSC Ensembl
Innerchr21:14634532..15020272hg19UCSC Ensembl
Innerchr21:13556403..13942143hg18UCSC Ensembl
Innerchr21:13556403..13942143hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38385741
hg19385741
hg18385741
hg17385741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758529
Supporting Variants
SamplesNA18529
Known GenesLOC100288966, MIR3156-3, POTED
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)essv5592
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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