A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6204613



Internal ID9159838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11930178..12035230hg38UCSC Ensembl
chr8:11787687..11892739hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105053
hg19105053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670382
Supporting Variants
SamplesHG01354
Known GenesDEFB134, DEFB135, DEFB136
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6204613
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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