A curated catalogue of human genomic structural variation




Variant Details

Variant: essv58724



Internal ID11015915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49684148..49696318hg38UCSC Ensembl
Innerchr3:49721581..49733751hg19UCSC Ensembl
Innerchr3:49696585..49708755hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3812171
hg1912171
hg1812171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12377
Supporting Variants
SamplesNA19108
Known GenesMST1, RNF123
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)essv58724
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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