A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955654



Internal ID5438467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80244870..80246159hg38UCSC Ensembl
Innerchr5:80244878..80246151hg38UCSC Ensembl
Outerchr5:80244862..80246167hg38UCSC Ensembl
chr5:79540689..79541978hg19UCSC Ensembl
Innerchr5:79540697..79541970hg19UCSC Ensembl
Outerchr5:79540681..79541986hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605564
Supporting Variants
SamplesNA18960
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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