A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926437



Internal ID14075620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122136331..122136365hg38UCSC Ensembl
Innerchr5:122136347..122136347hg38UCSC Ensembl
Outerchr5:122136313..122136381hg38UCSC Ensembl
chr5:121472026..121472060hg19UCSC Ensembl
Innerchr5:121472042..121472042hg19UCSC Ensembl
Outerchr5:121472008..121472076hg19UCSC Ensembl
chr5:121499925..121499959hg18UCSC Ensembl
Innerchr5:121499941..121499941hg18UCSC Ensembl
Outerchr5:121499907..121499975hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425509
Supporting Variants
SamplesNA18909
Known GenesZNF474
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926437
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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