A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6542673



Internal ID9740256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111291791..111294367hg38UCSC Ensembl
Outerchr5:111291634..111294520hg38UCSC Ensembl
Innerchr5:110627489..110630065hg19UCSC Ensembl
Outerchr5:110627332..110630218hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg382887
hg192887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671645
Supporting Variants
SamplesNA19676
Known GenesCAMK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6542673
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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