A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998847



Internal ID7064600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13261094..13263957hg38UCSC Ensembl
Outerchr18:13261093..13263956hg19UCSC Ensembl
Outerchr18:13251093..13253956hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382910
hg192910
hg182910
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564574
SamplesHuRef
Known GenesLDLRAD4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998847
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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