A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11571347



Internal ID4016803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:114520404..114570942hg38UCSC Ensembl
chr4:115441560..115492098hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3850539
hg1950539
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601830
Supporting Variants
SamplesHG03672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11571347
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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