A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26918



Internal ID11044151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2091142..2123135hg38UCSC Ensembl
Innerchr16:2141143..2173136hg19UCSC Ensembl
Innerchr16:2081144..2113137hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3831994
hg1931994
hg1831994
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20253, esv17808, esv18052
SamplesNA18502, NA07045, NA19114, NA12239, NA19099, NA06985, NA18909, NA12749, NA18511
Known GenesMIR6511B-1, PKD1
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)esv26918
Frequency
Sample Size40
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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