A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22245



Internal ID11039478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30186510..30335485hg38UCSC Ensembl
Innerchr16:30197831..30346806hg19UCSC Ensembl
Innerchr16:30105332..30254307hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38148976
hg19148976
hg18148976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18616, esv21428, esv12853
SamplesNA18861, NA18517, NA12776, NA15510, NA18505, NA12287, NA18916, NA19190, NA12239, NA18502, NA19225
Known GenesBOLA2, BOLA2B, CORO1A, LOC388242, LOC440354, LOC595101, LOC606724, LOC613037, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
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)esv22245
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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