A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11215



Internal ID11375134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104940674..104953570hg38UCSC Ensembl
Innerchr14:105407011..105419907hg19UCSC Ensembl
Innerchr14:104478056..104490952hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3812897
hg1912897
hg1812897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25274
Supporting Variantsessv66784, essv82982, essv74990, essv68518, essv62250, essv33127, essv61195, essv43777, essv60639, essv72724
SamplesNA12004, NA19190, NA12828, NA12239, NA15510, NA19225, NA18523, NA18858, NA18909, NA19147
Known GenesAHNAK2
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)esv11215
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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