A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28815



Internal ID11046048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49683318..49698418hg38UCSC Ensembl
Innerchr3:49720751..49735851hg19UCSC Ensembl
Innerchr3:49695755..49710855hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3815101
hg1915101
hg1815101
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11181, esv12377, esv11877
SamplesNA18502, NA12414, NA12156, NA12828, NA11993, NA12878, NA18907, NA07045, NA19114, NA12239, NA15510, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA12749
Known GenesAPEH, MST1, RNF123
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)esv28815
Frequency
Sample Size40
Observed Gain17
Observed Loss1
Observed Complex0
Frequencyn/a


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