A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11805119



Internal ID4413721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8017355..8022295hg38UCSC Ensembl
Innerchr5:8017378..8022272hg38UCSC Ensembl
Outerchr5:8017332..8022318hg38UCSC Ensembl
chr5:8017468..8022408hg19UCSC Ensembl
Innerchr5:8017491..8022385hg19UCSC Ensembl
Outerchr5:8017445..8022431hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384941
hg194941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603942
Supporting Variants
SamplesHG03928
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11805119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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