A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25186



Internal ID11042419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4858500..5142800hg38UCSC Ensembl
Innerchr16:4908501..5192801hg19UCSC Ensembl
Innerchr16:4848502..5132802hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38284301
hg19284301
hg18284301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16926, esv11787
SamplesNA11931, NA19129, NA18858
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, PPL, SEC14L5, UBN1
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)esv25186
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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