A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27973



Internal ID11045206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87111893..87369318hg38UCSC Ensembl
Innerchr10:88871650..89129075hg19UCSC Ensembl
Innerchr10:88861630..89119055hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38257426
hg19257426
hg18257426
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14629, esv13181, esv19607, esv17143, esv11223, esv12461
SamplesNA18502, NA18861, NA11931, NA12004, NA19190, NA12156, NA12044, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511
Known GenesFAM35A, LOC439994, NUTM2A, NUTM2A-AS1, NUTM2D
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)esv27973
Frequency
Sample Size40
Observed Gain4
Observed Loss26
Observed Complex0
Frequencyn/a


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