A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13125



Internal ID11030359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80396528..80656857hg38UCSC Ensembl
Innerchr17:78370328..78630657hg19UCSC Ensembl
Innerchr17:75984923..76245252hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38260330
hg19260330
hg18260330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24254
Supporting Variantsessv57814, essv45499, essv51147, essv63626, essv80056, essv40639, essv46810
SamplesNA11995, NA18861, NA11931, NA11993, NA12878, NA07045, NA19129
Known GenesENDOV, LOC100294362, MIR4730, NPTX1, RNF213, RPTOR
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)esv13125
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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