A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29127



Internal ID11046360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118929842..118950922hg38UCSC Ensembl
Innerchr6:119251007..119272087hg19UCSC Ensembl
Innerchr6:119292706..119313786hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3821081
hg1921081
hg1821081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16596
SamplesNA18511, NA11995
Known GenesMCM9
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)esv29127
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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