A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28756



Internal ID11045989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10324359..10814516hg38UCSC Ensembl
Innerchr21:10697941..11188098hg19UCSC Ensembl
Innerchr21:9719812..10209969hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38490158
hg19490158
hg18490158
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13330, esv15016, esv10739, esv10837, esv18932, esv10299, esv18137, esv18399, esv13930, esv10775, esv11634, esv14720, esv14620
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
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)esv28756
Frequency
Sample Size40
Observed Gain30
Observed Loss27
Observed Complex0
Frequencyn/a


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