A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22376



Internal ID11039609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62725644..62730188hg38UCSC Ensembl
Innerchr3:62711319..62715863hg19UCSC Ensembl
Innerchr3:62686359..62690903hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384545
hg194545
hg184545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10727
SamplesNA18907
Known GenesCADPS
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)esv22376
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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