A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13225804



Internal ID2094581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73433227..73436283hg38UCSC Ensembl
chr8:74345462..74348518hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383057
hg193057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617634
Supporting Variants
SamplesHG01896
Known GenesSTAU2, STAU2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13225804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer