A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213168



Internal ID5761055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63923058..63939063hg38UCSC Ensembl
Innerchr8:63923062..63939059hg38UCSC Ensembl
Outerchr8:63923054..63939067hg38UCSC Ensembl
chr8:64835615..64851620hg19UCSC Ensembl
Innerchr8:64835619..64851616hg19UCSC Ensembl
Outerchr8:64835611..64851624hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3816006
hg1916006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617435
Supporting Variants
SamplesNA19131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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