A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22517



Internal ID11386436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40977855..40983723hg38UCSC Ensembl
Innerchr17:39134107..39139975hg19UCSC Ensembl
Innerchr17:36387633..36393501hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385869
hg195869
hg185869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16283, esv19975
SamplesNA18861, NA18508, NA18907, NA15510, NA19099, NA19225, NA18523, NA19240
Known GenesKRT40
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)esv22517
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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