A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25715



Internal ID11042948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114198348..114344365hg38UCSC Ensembl
Innerchr13:114963823..115109840hg19UCSC Ensembl
Innerchr13:113981925..114127942hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38146018
hg19146018
hg18146018
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14379, esv10621, esv18856, esv19157, esv10503
SamplesNA12489, NA18861, NA19114, NA12828, NA19108, NA12044, NA12287, NA19190, NA19129, NA06985, NA12749, NA12156, NA11993
Known GenesCDC16, CHAMP1, UPF3A
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)esv25715
Frequency
Sample Size40
Observed Gain1
Observed Loss13
Observed Complex0
Frequencyn/a


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