A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11251



Internal ID11028485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29371703..29641803hg38UCSC Ensembl
Innerchr16:29383024..29653124hg19UCSC Ensembl
Innerchr16:29290525..29560625hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38270101
hg19270101
hg18270101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29892
Supporting Variantsessv50299, essv61552, essv63143, essv42314
SamplesNA12239, NA15510, NA18517, NA18505
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC606724, LOC613038, SLC7A5P1, 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)esv11251
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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