A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383676



Internal ID15230646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7572820..7576918hg38UCSC Ensembl
Innerchr8:7573820..7575918hg38UCSC Ensembl
Outerchr8:7571820..7577918hg38UCSC Ensembl
chr8:7430342..7434440hg19UCSC Ensembl
Innerchr8:7431342..7433440hg19UCSC Ensembl
Outerchr8:7429342..7435440hg19UCSC Ensembl
chr8:7417752..7421850hg18UCSC Ensembl
Innerchr8:7418752..7420850hg18UCSC Ensembl
Outerchr8:7416752..7422850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4050e59
Supporting Variantsessv8696383
SamplesNA12878
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383676
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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