A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25670



Internal ID11389589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69936933..70009981hg38UCSC Ensembl
Innerchr16:69970836..70043884hg19UCSC Ensembl
Innerchr16:68528337..68601385hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3873049
hg1973049
hg1873049
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17618, esv10288, esv15512, esv10351, esv12504
SamplesNA18907, NA07045, NA12239, NA19099, NA19225, NA07037, NA18511
Known GenesCLEC18A, PDXDC2P, WWP2
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)esv25670
Frequency
Sample Size40
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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