A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23439



Internal ID11040672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160228955..160233814hg38UCSC Ensembl
Innerchr6:160649987..160654846hg19UCSC Ensembl
Innerchr6:160569977..160574836hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg384860
hg194860
hg184860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15630
SamplesNA19114
Known GenesSLC22A2
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)esv23439
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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