A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29057



Internal ID11046290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3253683..3262320hg38UCSC Ensembl
Innerchr6:3253917..3262554hg19UCSC Ensembl
Innerchr6:3198916..3207553hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg388638
hg198638
hg188638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20906, esv14983, esv17107
SamplesNA18508, NA18907, NA19114, NA19225, NA18909, NA19108, NA19147, NA12749, NA18511
Known GenesPSMG4
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)esv29057
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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