A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11433



Internal ID11375352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:402820..404801hg38UCSC Ensembl
Innerchr17:252611..254592hg19UCSC Ensembl
Innerchr17:252611..254911hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381982
hg191982
hg182301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27375
Supporting Variantsessv58103, essv49330, essv55563, essv46338, essv81186, essv63840, essv72851, essv54181, essv57192, essv70989, essv77103, essv46746, essv60055, essv65679
SamplesNA18861, NA18508, NA18916, NA11993, NA07045, NA19114, NA19099, NA19225, NA18523, NA19108, NA18517, NA19240, NA19129, NA18511
Known Genes
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)esv11433
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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