A curated catalogue of human genomic structural variation




Variant Details

Variant: essv50119



Internal ID11003936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14690279..14750605hg38UCSC Ensembl
Innerchr16:14784136..14844462hg19UCSC Ensembl
Innerchr16:14691637..14751963hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3860327
hg1960327
hg1860327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19409
Supporting Variants
SamplesNA18517
Known GenesNPIPA2, NPIPA3, PLA2G10
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)essv50119
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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