A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763688



Internal ID14911783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91545757..91545758hg38UCSC Ensembl
Innerchr8:91545735..91545780hg38UCSC Ensembl
Outerchr8:91545734..91545781hg38UCSC Ensembl
chr8:92557985..92557986hg19UCSC Ensembl
Innerchr8:92557963..92558008hg19UCSC Ensembl
Outerchr8:92557962..92558009hg19UCSC Ensembl
chr8:92627161..92627162hg18UCSC Ensembl
Innerchr8:92627184..92627139hg18UCSC Ensembl
Outerchr8:92627138..92627185hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304009
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763688
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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