A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005718



Internal ID1840044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42434771..42446121hg19UCSC Ensembl
Outerchr18:40688769..40700119hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg193876
hg183876
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564555
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)esv1005718
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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