A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27431



Internal ID11391350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96507839..96509731hg38UCSC Ensembl
Innerchr8:97520067..97521959hg19UCSC Ensembl
Innerchr8:97589243..97591135hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381893
hg191893
hg181893
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13348, esv15855
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12156, NA12044, NA12828, NA12489, NA12878, NA19114, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA19240, NA18505
Known GenesSDC2
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)esv27431
Frequency
Sample Size40
Observed Gain24
Observed Loss1
Observed Complex0
Frequencyn/a


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