A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675373



Internal ID9941478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129126970..129133676hg38UCSC Ensembl
Outerchr8:129126599..129134046hg38UCSC Ensembl
Innerchr8:130139216..130145922hg19UCSC Ensembl
Outerchr8:130138845..130146292hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387448
hg197448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5830788, essv5585155, essv6319195, essv5416026, essv6055965, essv5720371, essv5756311, essv6077905, essv5861689, essv6043992, essv6131589, essv5705341, essv6350293, essv6169365, essv5477100
SamplesNA19332, NA19393, NA19443, NA19379, NA19319, NA19313, NA19471, NA19317, NA19455, NA19452, NA19331, NA19376, NA19468, NA19463, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675373
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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