A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16041



Internal ID11033275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10499..177368hg38UCSC Ensembl
Innerchr1:10499..177368hg19UCSC Ensembl
Innerchr1:499..167231hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38166870
hg19166870
hg18166733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27265
Supporting Variantsessv60177, essv52357, essv34520
SamplesNA18502, NA18523, NA12006
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, LOC729737, MIR6859-1, MIR6859-2, OR4F5, WASH7P
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)esv16041
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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