A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11859417



Internal ID1861233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33517142..33526062hg38UCSC Ensembl
Innerchr5:33517142..33526062hg38UCSC Ensembl
Outerchr5:33516936..33526318hg38UCSC Ensembl
chr5:33517247..33526167hg19UCSC Ensembl
Innerchr5:33517247..33526167hg19UCSC Ensembl
Outerchr5:33517041..33526423hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg388921
hg198921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604655
Supporting Variants
SamplesHG00315
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11859417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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