A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24372



Internal ID9622972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46006548..46410395hg38UCSC Ensembl
Innerchr17:44083914..44487761hg19UCSC Ensembl
Innerchr17:41439751..41843177hg18UCSC Ensembl
Innerchr17:41439751..41843177hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38403848
hg19403848
hg18403427
hg17403427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA12707
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, MAPT, NSFP1
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)essv24372
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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