A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16106



Internal ID11033340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16849227..16955258hg38UCSC Ensembl
Innerchr1:17175722..17281753hg19UCSC Ensembl
Innerchr1:17048309..17154340hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38106032
hg19106032
hg18106032
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26111
Supporting Variantsessv43183, essv48929, essv75889, essv55555, essv58292, essv37529
SamplesNA12414, NA11894, NA19099, NA18909, NA19108, NA07037
Known GenesCROCC, MIR3675
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)esv16106
Frequency
Sample Size40
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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