A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16577



Internal ID11380496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:41693639..41707221hg38UCSC Ensembl
Innerchr10:42532988..42546570hg19UCSC Ensembl
Innerchr10:41852994..41866576hg18UCSC Ensembl
Cytoband10q11.1
Allele length
AssemblyAllele length
hg3813583
hg1913583
hg1813583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22496
Supporting Variantsessv75096, essv60245, essv62939, essv64374, essv75788, essv45871
SamplesNA12414, NA12004, NA07045, NA15510, NA18523, NA19129
Known Genes
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)esv16577
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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