A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597872



Internal ID6985010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135379694..135452953hg38UCSC Ensembl
chr3:135098536..135171795hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3873260
hg1973260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11156668, essv11156669, essv11156670
SamplesNA18520, HG00740, HG00553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597872
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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