A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589291



Internal ID6976619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239949966..240058047hg38UCSC Ensembl
chr1:240113266..240221347hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38108082
hg19108082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10344745, essv10344747, essv10344746
SamplesNA21106, NA18566, HG00240
Known GenesRPS7P5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589291
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