A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9998



Internal ID11394123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55363409..55364534hg38UCSC Ensembl
Innerchr15:55655607..55656732hg19UCSC Ensembl
Innerchr15:53442899..53444024hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381126
hg191126
hg181126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29128
Supporting Variantsessv80795, essv36911
SamplesNA11995, NA11894
Known GenesCCPG1, DYX1C1-CCPG1
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)esv9998
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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