A curated catalogue of human genomic structural variation




Variant Details

Variant: essv55958



Internal ID11341252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54221392..54242097hg38UCSC Ensembl
Innerchr19:54725264..54745973hg19UCSC Ensembl
Innerchr19:59417076..59437785hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3820706
hg1920710
hg1820710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12215
Supporting Variants
SamplesNA12776
Known GenesLILRA6, LILRB3
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)essv55958
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer