A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310107



Internal ID15157058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129699935..129699936hg38UCSC Ensembl
Innerchr8:129699883..129699988hg38UCSC Ensembl
Outerchr8:129699882..129699989hg38UCSC Ensembl
chr8:130712181..130712182hg19UCSC Ensembl
Innerchr8:130712129..130712234hg19UCSC Ensembl
Outerchr8:130712128..130712235hg19UCSC Ensembl
chr8:130781363..130781364hg18UCSC Ensembl
Innerchr8:130781416..130781311hg18UCSC Ensembl
Outerchr8:130781310..130781417hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838724
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310107
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