A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998712



Internal ID6734644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5602363..5606960hg38UCSC Ensembl
Outerchr18:5602362..5606959hg19UCSC Ensembl
Outerchr18:5592362..5596959hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384598
hg194598
hg184598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565011
SamplesHuRef
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998712
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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