A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425509



Internal ID14925780
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 StatusM
Merged Variants
Supporting Variantsessv8926437, essv8926438, essv8926436
SamplesNA18502, NA18499, NA18909
Known GenesZNF474
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425509
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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