A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604959



Internal ID6991987
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1100e214
Supporting Variantsessv11892718, essv11892719, essv11892720, essv11892721, essv11892717, essv11892716
SamplesHG01513, HG04100, NA19317, NA19347, NA20809, NA19037
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604959
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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