A curated catalogue of human genomic structural variation




Variant Details

Variant: essv61011



Internal ID11335101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52993132..53005070hg38UCSC Ensembl
Innerchr3:53027148..53039086hg19UCSC Ensembl
Innerchr3:53002188..53014126hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3811939
hg1911939
hg1811939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18222
Supporting Variants
SamplesNA12239
Known GenesSFMBT1
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)essv61011
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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