A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618831



Internal ID7005713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130525030..130561769hg38UCSC Ensembl
chr8:131537276..131574015hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3836740
hg1936740
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13329197
SamplesHG02780
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618831
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