A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663907



Internal ID9583326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23013058..23013632hg38UCSC Ensembl
Outerchr8:23012901..23013785hg38UCSC Ensembl
Innerchr8:22870571..22871145hg19UCSC Ensembl
Outerchr8:22870414..22871298hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854058, essv6068157, essv6282245, essv6353314, essv6003924
SamplesNA19381, NA19379, NA19382, HG01190, NA19834
Known GenesRHOBTB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663907
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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