A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696382



Internal ID13730636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7572820..7576618hg38UCSC Ensembl
Innerchr8:7573820..7575618hg38UCSC Ensembl
Outerchr8:7571820..7577618hg38UCSC Ensembl
chr8:7430342..7434140hg19UCSC Ensembl
Innerchr8:7431342..7433140hg19UCSC Ensembl
Outerchr8:7429342..7435140hg19UCSC Ensembl
chr8:7417752..7421550hg18UCSC Ensembl
Innerchr8:7418752..7420550hg18UCSC Ensembl
Outerchr8:7416752..7422550hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3435072
Supporting Variants
SamplesNA12892
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696382
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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