A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12020611



Internal ID3694556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111359246..111359566hg38UCSC Ensembl
Innerchr5:111359246..111359566hg38UCSC Ensembl
Outerchr5:111359246..111359566hg38UCSC Ensembl
chr5:110694944..110695264hg19UCSC Ensembl
Innerchr5:110694944..110695264hg19UCSC Ensembl
Outerchr5:110694944..110695264hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606270
Supporting Variants
SamplesHG03298
Known GenesCAMK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12020611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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