A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080453



Internal ID5596676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7022307..7063037hg38UCSC Ensembl
chr8:6879829..6920559hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3840731
hg1940731
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616104
Supporting Variants
SamplesNA19030
Known GenesDEFA11P, DEFA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080453
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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