A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005718



Internal ID31421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44854806..44866156hg38UCSC Ensembl
Outerchr18:42434771..42446121hg19UCSC Ensembl
Outerchr18:40688769..40700119hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3811351
hg1911351
hg1811351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564555
SamplesHuRef
Known GenesSETBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
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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