A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364400



Internal ID3511285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142648080..142657744hg38UCSC Ensembl
Innerchr8:142648230..142657594hg38UCSC Ensembl
Outerchr8:142647930..142657894hg38UCSC Ensembl
chr8:143729464..143739158hg19UCSC Ensembl
Innerchr8:143729614..143739008hg19UCSC Ensembl
Outerchr8:143729314..143739308hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389665
hg199695
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619090
Supporting Variants
SamplesHG03114
Known GenesJRK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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