A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617359



Internal ID7004244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59729595..59773213hg38UCSC Ensembl
Innerchr8:59729613..59773196hg38UCSC Ensembl
Outerchr8:59729578..59773231hg38UCSC Ensembl
chr8:60642154..60685772hg19UCSC Ensembl
Innerchr8:60642172..60685755hg19UCSC Ensembl
Outerchr8:60642137..60685790hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3843619
hg1943619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13208853, essv13208852
SamplesNA18628, HG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617359
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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