A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590243



Internal ID6630530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32217953..32258270hg38UCSC Ensembl
chr2:32443022..32483339hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3840318
hg1940318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447668
SamplesHG00500
Known GenesNLRC4, SLC30A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590243
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