A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25719



Internal ID11042952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57134377..57286915hg38UCSC Ensembl
Innerchr8:58046936..58199474hg19UCSC Ensembl
Innerchr8:58209490..58362028hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38152539
hg19152539
hg18152539
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17492, esv10908, esv11703, esv16967, esv12840, esv12323
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesLINC00588, LOC100507651, LOC286177
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)esv25719
Frequency
Sample Size40
Observed Gain37
Observed Loss1
Observed Complex0
Frequencyn/a


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