A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953095



Internal ID3740471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80157446..80219439hg38UCSC Ensembl
Innerchr5:80157446..80219439hg38UCSC Ensembl
Outerchr5:80156946..80219939hg38UCSC Ensembl
chr5:79453269..79515258hg19UCSC Ensembl
Innerchr5:79453269..79515258hg19UCSC Ensembl
Outerchr5:79452769..79515758hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3861994
hg1961990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605556
Supporting Variants
SamplesHG03372
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953095
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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