A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16411



Internal ID11380330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38712957..38756055hg38UCSC Ensembl
Innerchr10:39006088..39049186hg19UCSC Ensembl
Innerchr10:39046094..39089192hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3843099
hg1943099
hg1843099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26671
Supporting Variantsessv35035, essv63109
SamplesNA18502, NA15510
Known Genes
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)esv16411
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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