A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29431



Internal ID11046664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:85006793..85009565hg38UCSC Ensembl
Innerchr16:85040399..85043171hg19UCSC Ensembl
Innerchr16:83597900..83600672hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg382773
hg192773
hg182773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12028
SamplesNA18861, NA18916
Known GenesZDHHC7
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)esv29431
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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