A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15023



Internal ID11378942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121344864..121401292hg38UCSC Ensembl
Innerchr1:121086730..121143152hg19UCSC Ensembl
Innerchr1:120788253..120844675hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3856429
hg1956423
hg1856423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28381
Supporting Variantsessv82234, essv72557, essv76598, essv32346, essv34943, essv75619, essv48602, essv63577, essv63240, essv45230, essv43807, essv52646, essv51623, essv59264, essv35734, essv67925, essv56586
SamplesNA18502, NA12414, NA11931, NA18907, NA07045, NA19114, NA15510, NA19225, NA18858, NA18909, NA19108, NA19147, NA07037, NA19129, NA12006, NA18511, NA12776
Known GenesSRGAP2-AS1, SRGAP2D
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)esv15023
Frequency
Sample Size40
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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