A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23917



Internal ID11387836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20413029..20534993hg38UCSC Ensembl
Innerchr19:20595835..20717799hg19UCSC Ensembl
Innerchr19:20387675..20509639hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38121965
hg19121965
hg18121965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19084
SamplesNA12878, NA19114, NA19108, NA19147, NA18517
Known GenesZNF826P
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)esv23917
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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