A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9866



Internal ID11047305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84000202..84001736hg38UCSC Ensembl
Innerchr16:84033807..84035341hg19UCSC Ensembl
Innerchr16:82591308..82592842hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28321
Supporting Variantsessv67515, essv46526, essv60237, essv43974, essv76505, essv82803, essv35989, essv53100, essv33988, essv42145, essv72040
SamplesNA18502, NA18508, NA19190, NA18907, NA19225, NA18523, NA18858, NA18909, NA18505, NA19129, NA18511
Known GenesNECAB2
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)esv9866
Frequency
Sample Size40
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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