A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351981



Internal ID15198962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31383924..31383943hg38UCSC Ensembl
Innerchr8:31383920..31383947hg38UCSC Ensembl
Outerchr8:31383901..31383966hg38UCSC Ensembl
chr8:31241440..31241459hg19UCSC Ensembl
Innerchr8:31241436..31241463hg19UCSC Ensembl
Outerchr8:31241417..31241482hg19UCSC Ensembl
chr8:31360982..31361001hg18UCSC Ensembl
Innerchr8:31361005..31360978hg18UCSC Ensembl
Outerchr8:31360959..31361024hg18UCSC Ensembl
Cytoband8p12
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 Variantsessv9638336
SamplesNA11894
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351981
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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