A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28119



Internal ID11045352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88572415..88575675hg38UCSC Ensembl
Innerchr16:88638823..88642083hg19UCSC Ensembl
Innerchr16:87166324..87169584hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383261
hg193261
hg183261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11988
SamplesNA12044, NA07037
Known GenesZC3H18
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)esv28119
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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