A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809486



Internal ID13652875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130897733..130897887hg38UCSC Ensembl
Innerchr8:130897732..130897888hg38UCSC Ensembl
Outerchr8:130897623..130898007hg38UCSC Ensembl
chr8:131909979..131910133hg19UCSC Ensembl
Innerchr8:131909978..131910134hg19UCSC Ensembl
Outerchr8:131909869..131910253hg19UCSC Ensembl
chr8:131979161..131979315hg18UCSC Ensembl
Innerchr8:131979316..131979160hg18UCSC Ensembl
Outerchr8:131979051..131979435hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385643
Supporting Variants
SamplesNA12878
Known GenesADCY8
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809486
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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