A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22599



Internal ID11039832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60334744..60336779hg38UCSC Ensembl
Innerchr17:58412105..58414140hg19UCSC Ensembl
Innerchr17:55766887..55768922hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382036
hg192036
hg182036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15649, esv16125
SamplesNA18861, NA07037, NA11931, NA12828, NA12776, NA19257, NA15510, NA12044, NA12287, NA19147, NA12414, NA18508, NA12004, NA11995, NA19190, NA12006, NA07045, NA12239, NA06985, NA18502, NA12749, NA12156, NA19099, NA12878, NA11993, NA19240
Known GenesUSP32
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)esv22599
Frequency
Sample Size40
Observed Gain23
Observed Loss3
Observed Complex0
Frequencyn/a


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