A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589589



Internal ID6976918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45283..210119hg38UCSC Ensembl
chr2:45283..210119hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38164837
hg19164837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383087, essv10383088, essv10383085, essv10383086
SamplesNA12843, HG03696, HG04020, HG02820
Known GenesFAM110C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589589
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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