A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25717



Internal ID11042950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21396897..21937805hg38UCSC Ensembl
Innerchr16:21408218..21949126hg19UCSC Ensembl
Innerchr16:21315719..21856627hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38540909
hg19540909
hg18540909
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19523, esv15471, esv11530, esv17601, esv20997, esv20712, esv20752
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA19257, NA19108, NA15510, NA18505, NA12044, NA19147, NA12414, NA18508, NA11995, NA18916, NA19190, NA12006, NA12239, NA19129, NA06985, NA18858, NA18907, NA18909, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesIGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2
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)esv25717
Frequency
Sample Size40
Observed Gain32
Observed Loss1
Observed Complex0
Frequencyn/a


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