A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606345



Internal ID6993281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114550239..114554139hg38UCSC Ensembl
Innerchr5:114550289..114554089hg38UCSC Ensembl
Outerchr5:114550189..114554189hg38UCSC Ensembl
chr5:113885936..113889836hg19UCSC Ensembl
Innerchr5:113885986..113889786hg19UCSC Ensembl
Outerchr5:113885886..113889886hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023950, essv12023949
SamplesHG03072, HG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606345
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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