A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10607



Internal ID11027841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38045661..38069536hg38UCSC Ensembl
Innerchr17:33529260..33557077hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3823876
hg1827818
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28567
Supporting Variantsessv83570, essv72117, essv63170, essv50819, essv37479, essv41985, essv40884, essv34874, essv69128, essv65511, essv54602
SamplesNA18502, NA11931, NA19190, NA12044, NA12878, NA11894, NA15510, NA19099, NA19225, NA19240, NA18505
Known GenesTBC1D3, TBC1D3C, TBC1D3F
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv10607
Frequency
Sample Size40
Observed Gain9
Observed Loss2
Observed Complex0
Frequencyn/a


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