A curated catalogue of human genomic structural variation




Variant Details

Variant: essv74174



Internal ID11334071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13702773..13715791hg38UCSC Ensembl
Innerchr3:13744272..13757290hg19UCSC Ensembl
Innerchr3:13719273..13732291hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3813019
hg1913019
hg1813019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv18983
Supporting Variants
SamplesNA12156
Known GenesLINC00620
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)essv74174
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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