A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28567



Internal ID11045800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38045661..38256833hg38UCSC Ensembl
Innerchr17:33529260..33666666hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38211173
hg18137407
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9995, esv14772, esv14086, esv13720, esv10211, esv10607, esv10350, esv17200
SamplesNA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11894, NA18916, NA19190, NA12239, NA19129, NA18502, NA18858, NA18907, NA18909, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F
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)esv28567
Frequency
Sample Size40
Observed Gain27
Observed Loss12
Observed Complex0
Frequencyn/a


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