A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21553



Internal ID9619840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46006548..46300887hg38UCSC Ensembl
Innerchr17:44083914..44378253hg19UCSC Ensembl
Innerchr17:41439751..41734030hg18UCSC Ensembl
Innerchr17:41439751..41734030hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38294340
hg19294340
hg18294280
hg17294280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA12873
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, MAPT
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)essv21553
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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