A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16395



Internal ID11380314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38404781..38483396hg38UCSC Ensembl
Innerchr10:38693709..38772324hg19UCSC Ensembl
Innerchr10:38733715..38812330hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3878616
hg1978616
hg1878616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29065
Supporting Variantsessv42382, essv52143, essv34775
SamplesNA18502, NA18505, NA12006
Known GenesLINC00999
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)esv16395
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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