A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12917389



Internal ID4540754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106289240..106304906hg38UCSC Ensembl
chr7:105929686..105945352hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3815667
hg1915667
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614441
Supporting Variants
SamplesHG04035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12917389
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