A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11892719



Internal ID5899023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45831151..45902708hg38UCSC Ensembl
chr5:45831253..45902810hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3871558
hg1971558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604959
Supporting Variants
SamplesNA19317
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11892719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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