A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589684



Internal ID6977013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4518471..4529223hg38UCSC Ensembl
chr2:4566061..4576813hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3810753
hg1910753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10400288
SamplesHG03986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589684
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