A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25327



Internal ID11389246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41350693..41369372hg38UCSC Ensembl
Innerchr17:39506945..39525624hg19UCSC Ensembl
Innerchr17:36760471..36779150hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818680
hg1918680
hg1818680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16861
SamplesNA18502, NA18508, NA19190, NA18916, NA19114, NA19257, NA19108, NA19240
Known GenesKRT33A, KRT33B
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)esv25327
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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