A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11359132



Internal ID729926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12933473..12950490hg38UCSC Ensembl
chr4:12935097..12952114hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3817018
hg1917018
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599693
Supporting Variants
SamplesHG00342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11359132
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