A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5832006



Internal ID9193205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130838503..130840492hg38UCSC Ensembl
chr8:131850749..131852738hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381990
hg191990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675868
Supporting Variants
SamplesHG01491
Known GenesADCY8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5832006
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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