A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023949



Internal ID1264955
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606345
Supporting Variants
SamplesHG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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