A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15221



Internal ID11379140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12128105..12177508hg38UCSC Ensembl
Innerchr8:11985614..12035017hg19UCSC Ensembl
Innerchr8:12023023..12072426hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3849404
hg1949404
hg1849404
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22986
Supporting Variantsessv83770, essv81779, essv37229, essv80050, essv62997, essv66497, essv76314
SamplesNA11995, NA12414, NA19190, NA12828, NA19114, NA11894, NA15510
Known GenesFAM66D, FAM90A2P, LOC392196, USP17L2, USP17L7
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)esv15221
Frequency
Sample Size40
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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