A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25880



Internal ID11389799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93048119..93051849hg38UCSC Ensembl
Innerchr13:93700372..93704102hg19UCSC Ensembl
Innerchr13:92498373..92502103hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg383731
hg193731
hg183731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11726, esv16944
SamplesNA19190, NA18858
Known Genes
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)esv25880
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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