A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652383



Internal ID15103275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127849593..127850188hg38UCSC Ensembl
Innerchr8:127849593..127850188hg38UCSC Ensembl
Outerchr8:127849519..127850404hg38UCSC Ensembl
chr8:128861839..128862434hg19UCSC Ensembl
Innerchr8:128861839..128862434hg19UCSC Ensembl
Outerchr8:128861765..128862650hg19UCSC Ensembl
chr8:128931021..128931616hg18UCSC Ensembl
Innerchr8:128931021..128931616hg18UCSC Ensembl
Outerchr8:128930947..128931832hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397067
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652383
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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