A curated catalogue of human genomic structural variation




Variant Details

Variant: essv37038



Internal ID11326167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28365271..28404994hg38UCSC Ensembl
Innerchr16:28376592..28416315hg19UCSC Ensembl
Innerchr16:28284093..28323816hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3839724
hg1939724
hg1839724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16071
Supporting Variants
SamplesNA11894
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
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)essv37038
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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