A curated catalogue of human genomic structural variation




Variant Details

Variant: essv76222



Internal ID10990862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46329640..46333671hg38UCSC Ensembl
Innerchr17:44407006..44411037hg19UCSC Ensembl
Innerchr17:41762767..41766799hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384032
hg194032
hg184033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14877
Supporting Variants
SamplesNA12414
Known GenesARL17A, ARL17B, LRRC37A
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)essv76222
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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