A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7794762



Internal ID14252789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123667927..123667928hg38UCSC Ensembl
Innerchr8:123667910..123667945hg38UCSC Ensembl
Outerchr8:123667909..123667946hg38UCSC Ensembl
chr8:124680167..124680168hg19UCSC Ensembl
Innerchr8:124680150..124680185hg19UCSC Ensembl
Outerchr8:124680149..124680186hg19UCSC Ensembl
chr8:124749348..124749349hg18UCSC Ensembl
Innerchr8:124749366..124749331hg18UCSC Ensembl
Outerchr8:124749330..124749367hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307112
Supporting Variants
SamplesNA18592
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7794762
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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