A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606340



Internal ID6993276
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023866
SamplesHG03690
Known GenesKCNN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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