A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696499



Internal ID13705231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90683848..90685746hg38UCSC Ensembl
Innerchr8:90684746..90684848hg38UCSC Ensembl
Outerchr8:90682848..90686746hg38UCSC Ensembl
chr8:91696076..91697974hg19UCSC Ensembl
Innerchr8:91696974..91697076hg19UCSC Ensembl
Outerchr8:91695076..91698974hg19UCSC Ensembl
chr8:91765252..91767150hg18UCSC Ensembl
Innerchr8:91766252..91766150hg18UCSC Ensembl
Outerchr8:91764252..91768150hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368643
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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