A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430298



Internal ID15277254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151601798..151603396hg38UCSC Ensembl
Innerchr5:151602396..151602798hg38UCSC Ensembl
Outerchr5:151600798..151604396hg38UCSC Ensembl
chr5:150981359..150982957hg19UCSC Ensembl
Innerchr5:150981957..150982359hg19UCSC Ensembl
Outerchr5:150980359..150983957hg19UCSC Ensembl
chr5:150961552..150963150hg18UCSC Ensembl
Innerchr5:150962552..150962150hg18UCSC Ensembl
Outerchr5:150960552..150964150hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694613
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430298
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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