A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413584



Internal ID15260543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23668056..23668056hg38UCSC Ensembl
Innerchr8:23668055..23668057hg38UCSC Ensembl
Outerchr8:23668006..23668106hg38UCSC Ensembl
chr8:23525569..23525569hg19UCSC Ensembl
Innerchr8:23525568..23525570hg19UCSC Ensembl
Outerchr8:23525519..23525619hg19UCSC Ensembl
chr8:23581514..23581514hg18UCSC Ensembl
Innerchr8:23581515..23581513hg18UCSC Ensembl
Outerchr8:23581464..23581564hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701521
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413584
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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