A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13731



Internal ID11377650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32285670..32376490hg38UCSC Ensembl
Innerchr16:32296991..32387811hg19UCSC Ensembl
Innerchr16:32204492..32295312hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3890821
hg1990821
hg1890821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27116
Supporting Variantsessv82727, essv61076, essv60680, essv34653, essv63289, essv74336, essv65773, essv75875, essv33115, essv47920
SamplesNA18502, NA18861, NA12414, NA12004, NA19190, NA12239, NA15510, NA18523, NA19147, NA19240
Known GenesLOC390705
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)esv13731
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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