A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16761



Internal ID11033995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60059..216243hg38UCSC Ensembl
Innerchr11:60059..216243hg19UCSC Ensembl
Innerchr11:50059..206243hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38156185
hg19156185
hg18156185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22231
Supporting Variantsessv48483, essv52721, essv33894, essv41402
SamplesNA18502, NA07037, NA18505, NA12006
Known GenesBET1L, LINC01001, LOC653486, MIR6743, ODF3, RIC8A, SCGB1C1, SIRT3
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)esv16761
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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