A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131089



Internal ID3132905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19676108..19676765hg38UCSC Ensembl
Innerchr8:19676108..19676765hg38UCSC Ensembl
Outerchr8:19675886..19677001hg38UCSC Ensembl
chr8:19533619..19534276hg19UCSC Ensembl
Innerchr8:19533619..19534276hg19UCSC Ensembl
Outerchr8:19533397..19534512hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616547
Supporting Variants
SamplesNA20517
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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