A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617635



Internal ID6657830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73433227..73436283hg38UCSC Ensembl
chr8:74345462..74348518hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383057
hg193057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13225855, essv13225856
SamplesNA20900, HG03645
Known GenesSTAU2, STAU2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617635
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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