A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618649



Internal ID7005531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122484534..122551218hg38UCSC Ensembl
chr8:123496773..123563457hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3866685
hg1966685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13308847
SamplesHG00273
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618649
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer