A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17676



Internal ID11381595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16020447..16064388hg38UCSC Ensembl
Innerchr1:16346942..16390883hg19UCSC Ensembl
Innerchr1:16219529..16263470hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3843942
hg1943942
hg1843942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25815
Supporting Variantsessv42989, essv68155, essv44522, essv53130, essv58289
SamplesNA18508, NA12489, NA18858, NA18909, NA19108
Known GenesCLCNKA, CLCNKB, FAM131C
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)esv17676
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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