A curated catalogue of human genomic structural variation




Variant Details

Variant: essv43349



Internal ID11011400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39152083..39280746hg38UCSC Ensembl
Innerchr9:39152080..39280743hg19UCSC Ensembl
Innerchr9:39142080..39270743hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38128664
hg19128664
hg18128664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20117
Supporting Variants
SamplesNA18909
Known GenesCNTNAP3
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)essv43349
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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