A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369578



Internal ID15216554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85344246..85344246hg38UCSC Ensembl
Innerchr8:85344245..85344247hg38UCSC Ensembl
Outerchr8:85344186..85344296hg38UCSC Ensembl
chr8:86256475..86256475hg19UCSC Ensembl
Innerchr8:86256474..86256476hg19UCSC Ensembl
Outerchr8:86256415..86256525hg19UCSC Ensembl
chr8:86443727..86443727hg18UCSC Ensembl
Innerchr8:86443728..86443726hg18UCSC Ensembl
Outerchr8:86443667..86443777hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8842705
SamplesNA12878
Known GenesCA1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369578
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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