A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616566



Internal ID7003452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20273889..20280125hg38UCSC Ensembl
Innerchr8:20273904..20280111hg38UCSC Ensembl
Outerchr8:20273875..20280140hg38UCSC Ensembl
chr8:20131400..20137636hg19UCSC Ensembl
Innerchr8:20131415..20137622hg19UCSC Ensembl
Outerchr8:20131386..20137651hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386237
hg196237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13132506
SamplesHG02455
Known GenesLZTS1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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