A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18245



Internal ID11382164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206382600..206410252hg38UCSC Ensembl
Innerchr1:206555955..206583612hg19UCSC Ensembl
Innerchr1:204622578..204650235hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3827653
hg1927658
hg1827658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28559
Supporting Variantsessv83536, essv45620, essv37910, essv44745, essv35047, essv40736, essv60606, essv58876, essv62358, essv67660, essv41446, essv32426, essv70869, essv36408, essv73710
SamplesNA18502, NA19190, NA18916, NA12156, NA12489, NA12878, NA18907, NA15510, NA19257, NA18523, NA18858, NA19108, NA19147, NA18505, NA19129
Known GenesSRGAP2, SRGAP2B, SRGAP2C, 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)esv18245
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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