A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306453



Internal ID15153401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93360093..93360094hg38UCSC Ensembl
Innerchr5:93360049..93360138hg38UCSC Ensembl
Outerchr5:93360048..93360139hg38UCSC Ensembl
chr5:92695799..92695800hg19UCSC Ensembl
Innerchr5:92695755..92695844hg19UCSC Ensembl
Outerchr5:92695754..92695845hg19UCSC Ensembl
chr5:92721555..92721556hg18UCSC Ensembl
Innerchr5:92721600..92721511hg18UCSC Ensembl
Outerchr5:92721510..92721601hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744733, essv7758325
SamplesNA19190, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306453
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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