A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385643



Internal ID15232613
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 StatusM
Merged Variants
Supporting Variantsessv8809486
SamplesNA12878
Known GenesADCY8
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385643
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer