A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9640091



Internal ID14912066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91545748..91545767hg38UCSC Ensembl
Innerchr8:91545744..91545771hg38UCSC Ensembl
Outerchr8:91545725..91545790hg38UCSC Ensembl
chr8:92557976..92557995hg19UCSC Ensembl
Innerchr8:92557972..92557999hg19UCSC Ensembl
Outerchr8:92557953..92558018hg19UCSC Ensembl
chr8:92627152..92627171hg18UCSC Ensembl
Innerchr8:92627175..92627148hg18UCSC Ensembl
Outerchr8:92627129..92627194hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434647
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9640091
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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