A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28345



Internal ID11045578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87726017..87727356hg38UCSC Ensembl
Innerchr16:87759623..87760962hg19UCSC Ensembl
Innerchr16:86317124..86318463hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381340
hg191340
hg181340
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11844
SamplesNA15510, NA12044
Known GenesKLHDC4
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)esv28345
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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