A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758683



Internal ID9634142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27551461..27850093hg38UCSC Ensembl
Innerchr17:25878487..26177119hg19UCSC Ensembl
Innerchr17:22902614..23201246hg18UCSC Ensembl
Innerchr17:22902614..23201246hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38298633
hg19298633
hg18298633
hg17298633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758448
SamplesNA18860, NA18508, NA19129, NA19128, NA19132, NA18853
Known GenesKSR1, LGALS9, NOS2
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)esv2758683
Frequency
Sample Size270
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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