A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15253



Internal ID11379172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241589805..241591256hg38UCSC Ensembl
Innerchr2:242529220..242530671hg19UCSC Ensembl
Innerchr2:242177893..242179344hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21920
Supporting Variantsessv44022, essv53798, essv75118, essv32702, essv57766, essv34178, essv48044, essv37149, essv66253, essv62845, essv55888, essv52464, essv37909, essv73994, essv46700, essv68894, essv80581, essv61425, essv66942, essv54291, essv72065, essv77495, essv49149, essv81552, essv58177, essv83264, essv41699
SamplesNA18502, NA11995, NA18861, NA18508, NA12004, NA19190, NA12156, NA12828, NA11993, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA18505, NA19129, NA12006, NA12776
Known GenesTHAP4
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)esv15253
Frequency
Sample Size40
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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