A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29092



Internal ID11046325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84146589..84246195hg38UCSC Ensembl
Innerchr15:84815341..84914947hg19UCSC Ensembl
Innerchr15:82606345..82705951hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3899607
hg1999607
hg1899607
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17099, esv16394, esv16593, esv18312, esv19413
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA12004, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesDNM1P41, GOLGA6L4, LOC100505679, LOC388152, LOC440300, LOC642423
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)esv29092
Frequency
Sample Size40
Observed Gain22
Observed Loss35
Observed Complex0
Frequencyn/a


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