A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023866



Internal ID4043812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114428122..114439534hg38UCSC Ensembl
Innerchr5:114428150..114439507hg38UCSC Ensembl
Outerchr5:114428095..114439562hg38UCSC Ensembl
chr5:113763819..113775231hg19UCSC Ensembl
Innerchr5:113763847..113775204hg19UCSC Ensembl
Outerchr5:113763792..113775259hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3811413
hg1911413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606340
Supporting Variants
SamplesHG03690
Known GenesKCNN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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