A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12021866



Internal ID5470095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111455373..111456435hg38UCSC Ensembl
Innerchr5:111455373..111456435hg38UCSC Ensembl
Outerchr5:111455256..111456617hg38UCSC Ensembl
chr5:110791071..110792133hg19UCSC Ensembl
Innerchr5:110791071..110792133hg19UCSC Ensembl
Outerchr5:110790954..110792315hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606274
Supporting Variants
SamplesNA18973
Known GenesCAMK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12021866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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