A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11787



Internal ID11029021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4858500..5127520hg38UCSC Ensembl
Innerchr16:4908501..5177521hg19UCSC Ensembl
Innerchr16:4848502..5117522hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38269021
hg19269021
hg18269021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25186
Supporting Variantsessv51249, essv46344
SamplesNA11931, NA19129
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)esv11787
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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