A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25519



Internal ID11042752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70111231..70251178hg38UCSC Ensembl
Innerchr16:70145134..70285081hg19UCSC Ensembl
Innerchr16:68702635..68842582hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38139948
hg19139948
hg18139948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14657, esv20058, esv18409, esv12910, esv21256
SamplesNA12004, NA12044, NA12878, NA18907, NA07045, NA12239, NA15510, NA19099, NA18523, NA19108, NA18517, NA07037, NA18505
Known GenesCLEC18C, EXOSC6, LOC100506060, PDPR
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)esv25519
Frequency
Sample Size40
Observed Gain9
Observed Loss4
Observed Complex0
Frequencyn/a


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