A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10910



Internal ID11028144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125208618..125209167hg38UCSC Ensembl
Innerchr11:125078514..125079063hg19UCSC Ensembl
Innerchr11:124583724..124584273hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38550
hg19550
hg18550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21773
Supporting Variantsessv64445
SamplesNA07045
Known GenesPKNOX2
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)esv10910
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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