A curated catalogue of human genomic structural variation




Variant Details

Variant: essv68045



Internal ID11353456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122582441..122598757hg38UCSC Ensembl
Innerchr10:124341957..124358273hg19UCSC Ensembl
Innerchr10:124331947..124348263hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3816317
hg1916317
hg1816317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19819
Supporting Variants
SamplesNA18858
Known GenesDMBT1
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)essv68045
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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