A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616104



Internal ID7002991
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13080450, essv13080454, essv13080452, essv13080453, essv13080451, essv13080449
SamplesHG03757, HG02143, HG02317, NA19030, NA19316, HG02808
Known GenesDEFA11P, DEFA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616104
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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