A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11938294



Internal ID595819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68986533..68998307hg38UCSC Ensembl
Innerchr5:68986558..68998282hg38UCSC Ensembl
Outerchr5:68986508..68998332hg38UCSC Ensembl
chr5:68282360..68294134hg19UCSC Ensembl
Innerchr5:68282385..68294109hg19UCSC Ensembl
Outerchr5:68282335..68294159hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3811775
hg1911775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605372
Supporting Variants
SamplesHG00260
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11938294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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