A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10917246



Internal ID6855374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8569861..8579567hg38UCSC Ensembl
Innerchr3:8569911..8579517hg38UCSC Ensembl
Outerchr3:8569796..8579632hg38UCSC Ensembl
chr3:8611547..8621253hg19UCSC Ensembl
Innerchr3:8611597..8621203hg19UCSC Ensembl
Outerchr3:8611482..8621318hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg389707
hg199707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595218
Supporting Variants
SamplesNA21089
Known GenesLINC00312
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10917246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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