A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21745



Internal ID11038978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152204756..152293321hg38UCSC Ensembl
Innerchr7:151901841..151990406hg19UCSC Ensembl
Innerchr7:151532774..151621339hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3888566
hg1988566
hg1888566
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14301, esv17029, esv18243, esv21016
SamplesNA18861, NA12287, NA12156, NA19108, NA19147, NA18517, NA18505
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)esv21745
Frequency
Sample Size40
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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