A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29758



Internal ID11393677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205925403..205953545hg38UCSC Ensembl
Innerchr1:205894531..205922673hg19UCSC Ensembl
Innerchr1:204161154..204189296hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3828143
hg1928143
hg1828143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21038, esv20317, esv19366
SamplesNA18861, NA19190, NA18916, NA12156, NA11993, NA18907, NA19257, NA18858, NA19147, NA19240, NA19129, NA18511, NA12776
Known GenesSLC26A9
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)esv29758
Frequency
Sample Size40
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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