A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673159



Internal ID9592578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30854185..30856871hg38UCSC Ensembl
Outerchr8:30854148..30856921hg38UCSC Ensembl
Innerchr8:30711701..30714387hg19UCSC Ensembl
Outerchr8:30711664..30714437hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382774
hg192774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6051313
SamplesHG01173
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673159
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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