A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13286211



Internal ID1421893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:110654364..110848735hg38UCSC Ensembl
chr8:111666593..111860964hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg38194372
hg19194372
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618407
Supporting Variants
SamplesHG01302
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13286211
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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