A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18471



Internal ID11035705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12373889..12382670hg38UCSC Ensembl
Innerchr8:12231398..12240179hg19UCSC Ensembl
Innerchr8:12275769..12284550hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg388782
hg198782
hg188782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25198
Supporting Variantsessv53751, essv44754, essv64899, essv56601, essv36799, essv64388, essv62911, essv46374, essv43380, essv39626, essv76486, essv67058, essv50892, essv78868, essv69662, essv59199, essv80482, essv78495, essv60253
SamplesNA11995, NA18508, NA12414, NA11931, NA12287, NA12044, NA12828, NA12489, NA07045, NA11894, NA15510, NA06985, NA18523, NA18909, NA19108, NA19240, NA12749, NA19129, NA12776
Known GenesFAM66A, LOC649352
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)esv18471
Frequency
Sample Size40
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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