A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27292



Internal ID11391211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111717081..111824787hg38UCSC Ensembl
Innerchr2:112474658..112582364hg19UCSC Ensembl
Innerchr2:112191129..112298835hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38107707
hg19107707
hg18107707
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20523, esv10638, esv11838
SamplesNA12044, NA11894, NA12239, NA19108, NA19147
Known GenesANAPC1, MIR4771-1, MIR4771-2
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)esv27292
Frequency
Sample Size40
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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