A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21428



Internal ID11038662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30186510..30293923hg38UCSC Ensembl
Innerchr16:30197831..30305244hg19UCSC Ensembl
Innerchr16:30105332..30212745hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38107414
hg19107414
hg18107414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22245
Supporting Variantsessv47586, essv33806, essv83667, essv39415, essv63409
SamplesNA18502, NA18861, NA19190, NA12287, NA15510
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)esv21428
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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