A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13373219



Internal ID5710255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145047982..145078516hg38UCSC Ensembl
chr8:146273368..146303902hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830535
hg1930535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619160
Supporting Variants
SamplesNA19092
Known GenesC8orf33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13373219
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