A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10581



Internal ID11027815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55722458..55725522hg38UCSC Ensembl
Innerchr7:55790151..55793215hg19UCSC Ensembl
Innerchr7:55757645..55760709hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg383065
hg193065
hg183065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28230
Supporting Variantsessv47953, essv49723
SamplesNA18861, NA18517
Known Genes
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)esv10581
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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