A curated catalogue of human genomic structural variation

Variant Details

Variant: esv28926

Internal ID11046159
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49426970..50475809hg38UCSC Ensembl
Innerchr14:49893688..50942527hg19UCSC Ensembl
Innerchr14:48963438..50012277hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16084, esv10615, esv12706, esv14890
SamplesNA12489, NA18861, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA19225, NA11993, NA19240
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
Pubmed ID19812545
Accession Number(s)esv28926
Sample Size40
Observed Gain35
Observed Loss1
Observed Complex0

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