A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758704



Internal ID9634163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77130826..77299326hg38UCSC Ensembl
Innerchr17:75126908..75295408hg19UCSC Ensembl
Innerchr17:72638503..72807003hg18UCSC Ensembl
Innerchr17:72638503..72807003hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38168501
hg19168501
hg18168501
hg17168501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758466
SamplesNA19119
Known GenesSEC14L1, SEPT9
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)esv2758704
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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