A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16891



Internal ID11380810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64837166..64934920hg38UCSC Ensembl
Innerchr17:62833284..62931038hg19UCSC Ensembl
Innerchr17:60263746..60361500hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3897755
hg1997755
hg1897755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24547
Supporting Variantsessv50707, essv39286, essv69717, essv74596, essv52395, essv78520, essv49244, essv73485, essv79642, essv72360, essv37485, essv80751, essv37671, essv55877, essv83437, essv57335
SamplesNA11995, NA11931, NA12004, NA19190, NA12287, NA12156, NA12044, NA11993, NA11894, NA19257, NA19225, NA06985, NA07037, NA12749, NA12006, NA12776
Known GenesLRRC37A3, PLEKHM1P
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)esv16891
Frequency
Sample Size40
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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