A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28322



Internal ID11045555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3404851..3654759hg38UCSC Ensembl
Innerchr11:3426081..3675989hg19UCSC Ensembl
Innerchr11:3382657..3632565hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38249909
hg19249909
hg18249909
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18699, esv16093
SamplesNA18502, NA18508, NA12004, NA18916, NA11993, NA18907, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA18517, NA18505, NA19129, NA18511
Known GenesART1, ART5, LOC650368, TRPC2
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)esv28322
Frequency
Sample Size40
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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