A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26790



Internal ID11044023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152434061..152436211hg38UCSC Ensembl
Innerchr7:152131146..152133296hg19UCSC Ensembl
Innerchr7:151762079..151764229hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382151
hg192151
hg182151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13333
SamplesNA12044
Known GenesKMT2C
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)esv26790
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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