A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19162



Internal ID11036396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60374683..60382212hg38UCSC Ensembl
Innerchr17:58452044..58459573hg19UCSC Ensembl
Innerchr17:55806826..55814355hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387530
hg197530
hg187530
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24610
Supporting Variantsessv37705, essv70412, essv75443, essv49246, essv73721, essv66397, essv39942, essv54220
SamplesNA18508, NA12414, NA18916, NA12156, NA12878, NA19257, NA19240, NA07037
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)esv19162
Frequency
Sample Size40
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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