A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13642



Internal ID11030876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9163358..9173700hg38UCSC Ensembl
Innerchr19:9274034..9284376hg19UCSC Ensembl
Innerchr19:9135034..9145376hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810343
hg1910343
hg1810343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27422
Supporting Variantsessv72110, essv83272, essv38697, essv51831, essv59289, essv66050
SamplesNA19257, NA19108, NA19190, NA12006, NA19225, NA19240
Known GenesZNF317
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)esv13642
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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