A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211447



Internal ID1067392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61819746..61823263hg38UCSC Ensembl
Innerchr8:61819776..61823233hg38UCSC Ensembl
Outerchr8:61819716..61823293hg38UCSC Ensembl
chr8:62732305..62735822hg19UCSC Ensembl
Innerchr8:62732335..62735792hg19UCSC Ensembl
Outerchr8:62732275..62735852hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383518
hg193518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617396
Supporting Variants
SamplesHG00692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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