A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741323



Internal ID15089878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117836889..117836889hg38UCSC Ensembl
Innerchr8:117836888..117836890hg38UCSC Ensembl
Outerchr8:117836839..117836939hg38UCSC Ensembl
chr8:118849128..118849128hg19UCSC Ensembl
Innerchr8:118849127..118849129hg19UCSC Ensembl
Outerchr8:118849078..118849178hg19UCSC Ensembl
chr8:118918309..118918309hg18UCSC Ensembl
Innerchr8:118918310..118918308hg18UCSC Ensembl
Outerchr8:118918259..118918359hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381053
hg191053
hg181053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3392490
Supporting Variants
SamplesNA19240
Known GenesEXT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741323
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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