A curated catalogue of human genomic structural variation




Variant Details

Variant: essv81065



Internal ID11329286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32979183..33020067hg38UCSC Ensembl
Innerchr19:33470089..33510973hg19UCSC Ensembl
Innerchr19:38161929..38202813hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3840885
hg1940885
hg1840885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15248
Supporting Variants
SamplesNA11995
Known GenesRHPN2
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)essv81065
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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