A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6479405



Internal ID9011068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11929987..12035036hg38UCSC Ensembl
chr8:11787496..11892545hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105050
hg19105050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667080
Supporting Variants
SamplesHG00620
Known GenesDEFB134, DEFB135, DEFB136
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6479405
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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