A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21442



Internal ID11038676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53958285..53963148hg38UCSC Ensembl
Innerchr19:54461539..54466402hg19UCSC Ensembl
Innerchr19:59153351..59158214hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384864
hg194864
hg184864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16096, esv18753
SamplesNA19108, NA18505, NA19147, NA11995, NA12006, NA12239, NA19129, NA18502, NA18858, NA18907, NA18909, NA19099, NA19225, NA19240
Known GenesCACNG8
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)esv21442
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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