A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21867



Internal ID11385786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39374143..39529900hg38UCSC Ensembl
Innerchr8:39231662..39387419hg19UCSC Ensembl
Innerchr8:39350819..39506576hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155758
hg19155758
hg18155758
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19748, esv12326, esv15032
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA18916, NA12156, NA11993, NA12489, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12776
Known GenesADAM3A, ADAM5
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)esv21867
Frequency
Sample Size40
Observed Gain26
Observed Loss4
Observed Complex0
Frequencyn/a


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