A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989108



Internal ID38698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5457110..5457209hg38UCSC Ensembl
chr18:5457109..5457208hg19UCSC Ensembl
chr18:5447109..5447208hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567433
SamplesHuRef
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989108
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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