A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758699



Internal ID9634158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59005218..59348273hg38UCSC Ensembl
Innerchr17:57082579..57425634hg19UCSC Ensembl
Innerchr17:54437361..54780416hg18UCSC Ensembl
Innerchr17:54437361..54780416hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38343056
hg19343056
hg18343056
hg17343056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758462
SamplesNA19099
Known GenesGDPD1, MIR301A, MIR454, PRR11, SKA2, SMG8, TRIM37, YPEL2
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)esv2758699
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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