A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368441



Internal ID15215417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129699949..129699968hg38UCSC Ensembl
Innerchr8:129699945..129699972hg38UCSC Ensembl
Outerchr8:129699926..129699991hg38UCSC Ensembl
chr8:130712195..130712214hg19UCSC Ensembl
Innerchr8:130712191..130712218hg19UCSC Ensembl
Outerchr8:130712172..130712237hg19UCSC Ensembl
chr8:130781377..130781396hg18UCSC Ensembl
Innerchr8:130781400..130781373hg18UCSC Ensembl
Outerchr8:130781354..130781419hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9641658, essv9641647
SamplesNA07347, NA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368441
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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