A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955707



Internal ID3740305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80375441..80398258hg38UCSC Ensembl
Innerchr5:80375441..80398258hg38UCSC Ensembl
Outerchr5:80374941..80398758hg38UCSC Ensembl
chr5:79671260..79694077hg19UCSC Ensembl
Innerchr5:79671260..79694077hg19UCSC Ensembl
Outerchr5:79670760..79694577hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3822818
hg1922818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605571
Supporting Variants
SamplesHG03372
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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