A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926154



Internal ID14873257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111321437..111321486hg38UCSC Ensembl
Innerchr5:111321453..111321470hg38UCSC Ensembl
Outerchr5:111321421..111321502hg38UCSC Ensembl
chr5:110657135..110657184hg19UCSC Ensembl
Innerchr5:110657151..110657168hg19UCSC Ensembl
Outerchr5:110657119..110657200hg19UCSC Ensembl
chr5:110685034..110685083hg18UCSC Ensembl
Innerchr5:110685050..110685067hg18UCSC Ensembl
Outerchr5:110685018..110685099hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380070
Supporting Variants
SamplesNA19116
Known GenesCAMK4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926154
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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