A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16325



Internal ID9614031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:33289079..33955396hg18UCSC Ensembl
Innerchr17:33289079..33955396hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg18666318
hg17666318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758453
Supporting Variants
SamplesNA19193
Known GenesARHGAP23, GPR179, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, YWHAEP7
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)essv16325
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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