A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23447



Internal ID11387366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20442047..20588723hg38UCSC Ensembl
Innerchr17:20345360..20492036hg19UCSC Ensembl
Innerchr17:20285952..20432628hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38146677
hg19146677
hg18146677
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14331, esv20964, esv20106, esv16898, esv12972, esv15317, esv17385
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA12489, NA18907, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511, NA12776
Known GenesCDRT15L2, KRT16P3, LGALS9B
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)esv23447
Frequency
Sample Size40
Observed Gain27
Observed Loss7
Observed Complex0
Frequencyn/a


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