A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26793



Internal ID11044026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:72914584..72915654hg38UCSC Ensembl
Innerchr17:70910723..70911793hg19UCSC Ensembl
Innerchr17:68422318..68423388hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381071
hg191071
hg181071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19176
SamplesNA12239
Known GenesSLC39A11
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)esv26793
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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