A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592409



Internal ID6979736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128951694..129099929hg38UCSC Ensembl
chr2:129709268..129857502hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38148236
hg19148235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10669075
SamplesHG03788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592409
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