A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28707



Internal ID11045940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11209230..11212075hg38UCSC Ensembl
Innerchr19:11319906..11322751hg19UCSC Ensembl
Innerchr19:11180906..11183751hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382846
hg192846
hg182846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11513
SamplesNA12044
Known GenesDOCK6
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)esv28707
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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