A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16509



Internal ID11033743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41581926..41585646hg38UCSC Ensembl
Innerchr17:39738178..39741898hg19UCSC Ensembl
Innerchr17:36991704..36995424hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383721
hg193721
hg183721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22954
Supporting Variantsessv41833, essv45602, essv65180, essv68113
SamplesNA18858, NA19240, NA18505, NA19129
Known GenesKRT14
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)esv16509
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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