A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701513



Internal ID13643604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102867908..102867908hg38UCSC Ensembl
Innerchr8:102867907..102867909hg38UCSC Ensembl
Outerchr8:102867858..102867958hg38UCSC Ensembl
chr8:103880136..103880136hg19UCSC Ensembl
Innerchr8:103880135..103880137hg19UCSC Ensembl
Outerchr8:103880086..103880186hg19UCSC Ensembl
chr8:103949312..103949312hg18UCSC Ensembl
Innerchr8:103949313..103949311hg18UCSC Ensembl
Outerchr8:103949262..103949362hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333947
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701513
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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