A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671792



Internal ID9937897
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6377551, essv5515024, essv5462998, essv6388118, essv6226995, essv5756250, essv5708989, essv5556544, essv6292313
SamplesNA19443, NA19313, NA18907, NA18523, NA19470, NA19311, HG01342, NA19223, NA19312
Known GenesSTAU2, STAU2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671792
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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