A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11123070



Internal ID1124886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122393677..122407495hg38UCSC Ensembl
chr3:122112524..122126342hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3813819
hg1913819
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597609
Supporting Variants
SamplesNA21109
Known GenesFAM162A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11123070
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