A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758700



Internal ID9634159
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758463
SamplesNA19142, NA18964, NA18863, NA19152, NA18861, NA12875, NA18859, NA18517, NA19144, NA18506, NA18632, NA19161, NA19211, NA18998, NA18508, NA18854, NA19100, NA18515, NA19129, NA19238, NA19154, NA18997, NA19131, NA19145, NA19201, NA19128, NA19132, NA19240, NA18853, NA19204, NA19202
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)esv2758700
Frequency
Sample Size270
Observed Gain30
Observed Loss1
Observed Complex0
Frequencyn/a


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