A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953092



Internal ID3740467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80140861..80152663hg38UCSC Ensembl
Innerchr5:80140861..80152663hg38UCSC Ensembl
Outerchr5:80140361..80153163hg38UCSC Ensembl
chr5:79436684..79448486hg19UCSC Ensembl
Innerchr5:79436684..79448486hg19UCSC Ensembl
Outerchr5:79436184..79448986hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3811803
hg1911803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605553
Supporting Variants
SamplesHG03372
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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