A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12038316



Internal ID5622186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120133220..120240036hg38UCSC Ensembl
chr5:119468915..119575731hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38106817
hg19106817
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606511
Supporting Variants
SamplesNA19054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12038316
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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