A curated catalogue of human genomic structural variation

Variant Details

Variant: esv15330

Internal ID11032564
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7827637..7967459hg38UCSC Ensembl
Innerchr8:7685159..7824981hg19UCSC Ensembl
Innerchr8:7722569..7862391hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv64086, essv80888
SamplesNA11995, NA07045
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB106A, DEFB106B, DEFB4A, FAM66E, SPAG11A, SPAG11B, ZNF705B
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
Pubmed ID19812545
Accession Number(s)esv15330
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0

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