A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616229



Internal ID7003116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10452702..10487152hg38UCSC Ensembl
Innerchr8:10452735..10487120hg38UCSC Ensembl
Outerchr8:10452670..10487185hg38UCSC Ensembl
chr8:10310212..10344662hg19UCSC Ensembl
Innerchr8:10310245..10344630hg19UCSC Ensembl
Outerchr8:10310180..10344695hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3834451
hg1934451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13101717, essv13101718
SamplesHG04225, HG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616229
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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