A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12215



Internal ID11376134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54220049..54245180hg38UCSC Ensembl
Innerchr19:54723919..54749032hg19UCSC Ensembl
Innerchr19:59415731..59440844hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3825132
hg1925114
hg1825114
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23225
Supporting Variantsessv55958, essv55618, essv43503, essv63041, essv83490, essv61057, essv68739, essv47534
SamplesNA18861, NA19190, NA12239, NA15510, NA19099, NA18858, NA18909, NA12776
Known GenesLILRA6, LILRB3
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)esv12215
Frequency
Sample Size40
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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