A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20435



Internal ID9618598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:33140728..33649105hg18UCSC Ensembl
Innerchr17:33140728..33649105hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg18508378
hg17508378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758453
Supporting Variants
SamplesNA10830
Known GenesHNF1B, LOC440434, 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)essv20435
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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