A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13225856



Internal ID6821127
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617635
Supporting Variants
SamplesNA20900
Known GenesSTAU2, STAU2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13225856
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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