A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15196



Internal ID11379115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6004890..6006780hg38UCSC Ensembl
Innerchr1:6064950..6066840hg19UCSC Ensembl
Innerchr1:5987537..5989427hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381891
hg191891
hg181891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22772
Supporting Variantsessv33293, essv38935, essv67438, essv48049, essv76445, essv77191, essv56907, essv83691, essv81810, essv53595, essv65930, essv73252, essv36767, essv77493, essv63022, essv68019, essv49585, essv42870
SamplesNA18861, NA18508, NA12414, NA19190, NA12287, NA12156, NA12828, NA11993, NA19114, NA11894, NA15510, NA06985, NA18858, NA18909, NA19147, NA18517, NA19240, NA18511
Known GenesKCNAB2
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)esv15196
Frequency
Sample Size40
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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