A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267439



Internal ID6429845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99050589..99075966hg38UCSC Ensembl
chr8:100062817..100088194hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3825378
hg1925378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618163
Supporting Variants
SamplesNA20505
Known GenesVPS13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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