A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5780422



Internal ID9741182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111291778..111294452hg38UCSC Ensembl
Outerchr5:111291744..111294487hg38UCSC Ensembl
Innerchr5:110627476..110630150hg19UCSC Ensembl
Outerchr5:110627442..110630185hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg382744
hg192744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677791
Supporting Variants
SamplesNA19676
Known GenesCAMK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5780422
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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