A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29375



Internal ID11046608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5887934..5897147hg38UCSC Ensembl
Innerchr4:5889661..5898874hg19UCSC Ensembl
Innerchr4:5940562..5949775hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg389214
hg199214
hg189214
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10231, esv12172
SamplesNA18505, NA12156
Known GenesCRMP1
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)esv29375
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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