A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22688



Internal ID11039921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:95096249..95314999hg38UCSC Ensembl
Innerchr10:96856006..97074756hg19UCSC Ensembl
Innerchr10:96845996..97064746hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38218751
hg19218751
hg18218751
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15160, esv15617, esv21432, esv9778, esv11975
SamplesNA18502, NA18508, NA19190, NA12156, NA12878, NA07045, NA11894, NA19099, NA19257, NA19225, NA18523, NA18858, NA19108, NA07037, NA18505, NA18511
Known GenesC10orf129, PDLIM1, SORBS1
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)esv22688
Frequency
Sample Size40
Observed Gain1
Observed Loss15
Observed Complex0
Frequencyn/a


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