A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11240540



Internal ID5061132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178207001..178214891hg38UCSC Ensembl
chr3:177924789..177932679hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg387891
hg197891
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598818
Supporting Variants
SamplesNA18536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11240540
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