A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11783554



Internal ID6019045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1603300..1622584hg38UCSC Ensembl
chr5:1603415..1622699hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3819285
hg1919285
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603815
Supporting Variants
SamplesNA19431
Known GenesLOC728613
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11783554
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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