A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14361



Internal ID9611849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46314456..46836265hg38UCSC Ensembl
Innerchr17:44391822..44913631hg19UCSC Ensembl
Innerchr17:41747597..42268630hg18UCSC Ensembl
Innerchr17:41747597..42268630hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38521810
hg19521810
hg18521034
hg17521034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA19194
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1, WNT3
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)essv14361
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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