A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008653



Internal ID1839232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42301906..42301906hg19UCSC Ensembl
chr18:40555904..40555904hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg19104
hg18104
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3569922
SamplesHuRef
Known GenesSETBP1
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008653
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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