A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616981



Internal ID7003867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40981939..40983735hg38UCSC Ensembl
Innerchr8:40981989..40983685hg38UCSC Ensembl
Outerchr8:40981863..40983811hg38UCSC Ensembl
chr8:40839458..40841254hg19UCSC Ensembl
Innerchr8:40839508..40841204hg19UCSC Ensembl
Outerchr8:40839382..40841330hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381797
hg191797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13180064, essv13180063
SamplesHG03603, HG04146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616981
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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