A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11612702



Internal ID4651513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133656609..133674187hg38UCSC Ensembl
chr4:134577764..134595342hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3817579
hg1917579
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602293
Supporting Variants
SamplesHG04182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11612702
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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