A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29821



Internal ID11047054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88824980..88825650hg38UCSC Ensembl
Innerchr16:88891388..88892058hg19UCSC Ensembl
Innerchr16:87418889..87419559hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38671
hg19671
hg18671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19683
SamplesNA18858, NA18909, NA19108, NA19147
Known GenesGALNS
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)esv29821
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer