A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28559



Internal ID11392478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206382600..206430060hg38UCSC Ensembl
Innerchr1:206555955..206603410hg19UCSC Ensembl
Innerchr1:204622578..204670033hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3847461
hg1947456
hg1847456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18245, esv16139
SamplesNA18502, NA19190, NA18916, NA12156, NA12489, NA12878, NA18907, NA15510, NA19257, NA19225, 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)esv28559
Frequency
Sample Size40
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer