A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821337



Internal ID1811707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17342579..17357176hg38UCSC Ensembl
Innerchr5:17343079..17356676hg38UCSC Ensembl
Outerchr5:17341579..17358176hg38UCSC Ensembl
chr5:17342688..17357285hg19UCSC Ensembl
Innerchr5:17343188..17356785hg19UCSC Ensembl
Outerchr5:17341688..17358285hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3814598
hg1914598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604159
Supporting Variants
SamplesHG01684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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