A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20918



Internal ID11384837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53916430..53925951hg38UCSC Ensembl
Innerchr19:54419684..54429205hg19UCSC Ensembl
Innerchr19:59111496..59121017hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389522
hg199522
hg189522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24802
Supporting Variantsessv36716, essv75067, essv69122, essv77288, essv62200, essv38720, essv57648, essv77988, essv64305, essv44901, essv52772, essv50572, essv56343, essv59530, essv63061, essv72240, essv68957
SamplesNA18508, NA12004, NA12044, NA11993, NA12489, NA07045, NA11894, NA12239, NA15510, NA19257, NA19225, NA06985, NA18523, NA18858, NA18517, NA18511, NA12776
Known GenesCACNG7
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)esv20918
Frequency
Sample Size40
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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