A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23564



Internal ID4354465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48397236..48398370hg38UCSC Ensembl
Innerchr19:48900493..48901627hg19UCSC Ensembl
Innerchr19:53592305..53593439hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381135
hg191135
hg181135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17247
SamplesNA12044
Known GenesGRIN2D
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)esv23564
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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