A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5462998



Internal ID9595442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73433229..73436610hg38UCSC Ensembl
chr8:74345464..74348845hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383382
hg193382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671792
Supporting Variants
SamplesNA19223
Known GenesSTAU2, STAU2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5462998
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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