A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153200



Internal ID3773052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28453204..28454996hg38UCSC Ensembl
Innerchr8:28453205..28454995hg38UCSC Ensembl
Outerchr8:28453203..28454997hg38UCSC Ensembl
chr8:28310721..28312513hg19UCSC Ensembl
Innerchr8:28310722..28312512hg19UCSC Ensembl
Outerchr8:28310720..28312514hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381793
hg191793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616738
Supporting Variants
SamplesHG03410
Known GenesFBXO16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153200
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