A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8939948



Internal ID14373267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54726768..54726796hg38UCSC Ensembl
Innerchr8:54726773..54726789hg38UCSC Ensembl
Outerchr8:54726747..54726817hg38UCSC Ensembl
chr8:55639328..55639356hg19UCSC Ensembl
Innerchr8:55639333..55639349hg19UCSC Ensembl
Outerchr8:55639307..55639377hg19UCSC Ensembl
chr8:55801882..55801910hg18UCSC Ensembl
Innerchr8:55801903..55801887hg18UCSC Ensembl
Outerchr8:55801861..55801931hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330145
Supporting Variants
SamplesNA18861
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8939948
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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