A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617565



Internal ID6657760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70376653..70380722hg38UCSC Ensembl
chr8:71288888..71292957hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384070
hg194070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219287, essv13219288, essv13219289, essv13219286
SamplesHG00559, NA19057, NA18964, NA20847
Known GenesNCOA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617565
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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