A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25412



Internal ID11042645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6416568..6461456hg38UCSC Ensembl
Innerchr1:6476628..6521516hg19UCSC Ensembl
Innerchr1:6399215..6444103hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3844889
hg1944889
hg1844889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14500
SamplesNA12489, NA19147, NA18916
Known GenesESPN, HES2, MIR4252, TNFRSF25
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)esv25412
Frequency
Sample Size40
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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