A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14050



Internal ID9611504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59918286..60081801hg38UCSC Ensembl
Innerchr17:57995647..58159162hg19UCSC Ensembl
Innerchr17:55350429..55513944hg18UCSC Ensembl
Innerchr17:55350429..55513944hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38163516
hg19163516
hg18163516
hg17163516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758463
Supporting Variants
SamplesNA18861
Known GenesHEATR6, MIR4737, RNFT1, RPS6KB1, TBC1D3P1-DHX40P1
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)essv14050
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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