A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16091



Internal ID11033325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83656360..83659496hg38UCSC Ensembl
Innerchr16:83689965..83693101hg19UCSC Ensembl
Innerchr16:82247466..82250602hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28755
Supporting Variantsessv34097, essv49733
SamplesNA18517, NA18502
Known GenesCDH13
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)esv16091
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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