A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753740



Internal ID18727986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5492290..5492497hg38UCSC Ensembl
Outerchr18:5492243..5492529hg38UCSC Ensembl
Innerchr18:5492289..5492496hg19UCSC Ensembl
Outerchr18:5492242..5492528hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554993
Supporting Variants
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753740
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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