A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246017



Internal ID3247833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85366203..85378739hg38UCSC Ensembl
Innerchr8:85366220..85378722hg38UCSC Ensembl
Outerchr8:85366186..85378756hg38UCSC Ensembl
chr8:86278432..86290968hg19UCSC Ensembl
Innerchr8:86278449..86290951hg19UCSC Ensembl
Outerchr8:86278415..86290985hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3812537
hg1912537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617874
Supporting Variants
SamplesNA18608
Known GenesCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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