A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12706



Internal ID11029940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49426970..50475809hg38UCSC Ensembl
Innerchr14:49893688..50942527hg19UCSC Ensembl
Innerchr14:48963438..50012277hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381048840
hg191048840
hg181048840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28926
Supporting Variantsessv53234, essv74142, essv57897, essv81027, essv62510, essv47776
SamplesNA11995, NA18861, NA18508, NA12156, NA11993, NA15510
Known GenesARF6, ATP5S, C14orf182, C14orf183, CDKL1, DNAAF2, KLHDC1, KLHDC2, L2HGDH, LOC100506499, LRR1, MAP4K5, MGAT2, MIR6076, NEMF, POLE2, RPL36AL, RPS29, SOS2, VCPKMT
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)esv12706
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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