A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657000



Internal ID9923105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:35198605..35201766hg38UCSC Ensembl
Outerchr8:35198568..35201816hg38UCSC Ensembl
Innerchr8:35056123..35059284hg19UCSC Ensembl
Outerchr8:35056086..35059334hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383249
hg193249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6031332, essv5530157
SamplesNA18504, NA19257
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657000
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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