A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28692



Internal ID11045925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14620982..14623237hg38UCSC Ensembl
Innerchr19:14731794..14734049hg19UCSC Ensembl
Innerchr19:14592794..14595049hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382256
hg192256
hg182256
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13241, esv18955
SamplesNA18861, NA18523, NA18517, NA18505, NA12044, NA12006, NA19129, NA18909, NA12156, NA19099, NA19225
Known GenesEMR3
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)esv28692
Frequency
Sample Size40
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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