A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616165



Internal ID7003052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9131113..9134417hg38UCSC Ensembl
Innerchr8:9131113..9134417hg38UCSC Ensembl
Outerchr8:9131056..9134489hg38UCSC Ensembl
chr8:8988623..8991927hg19UCSC Ensembl
Innerchr8:8988623..8991927hg19UCSC Ensembl
Outerchr8:8988566..8991999hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383305
hg193305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13095142, essv13095143
SamplesNA20761, HG02810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616165
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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