A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586



Internal ID9612098
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
SamplesNA19093
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)essv14586
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer