A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731985



Internal ID14385528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124755240..124755241hg38UCSC Ensembl
Outerchr8:124755096..124755386hg38UCSC Ensembl
Innerchr8:125767482..125767483hg19UCSC Ensembl
Outerchr8:125767338..125767628hg19UCSC Ensembl
Innerchr8:125836664..125836663hg18UCSC Ensembl
Outerchr8:125836519..125836809hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302798
Supporting Variants
SamplesNA18870
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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