A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28392



Internal ID11392311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:363975..403432hg38UCSC Ensembl
Innerchr11:363975..403432hg19UCSC Ensembl
Innerchr11:353975..393432hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3839458
hg1939458
hg1839458
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11112, esv13746, esv19005, esv20765
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA12156, NA12044, NA11993, NA07045, NA11894, NA12239, NA19099, NA19257, NA06985, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA12006, NA12776
Known GenesB4GALNT4, PKP3
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)esv28392
Frequency
Sample Size40
Observed Gain21
Observed Loss5
Observed Complex0
Frequencyn/a


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