A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5983047



Internal ID8791373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66208512..66209480hg38UCSC Ensembl
chr8:67120747..67121715hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665033
Supporting Variants
SamplesHG00236
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5983047
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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