A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926226



Internal ID13744900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115511539..115511558hg38UCSC Ensembl
Innerchr5:115511537..115511560hg38UCSC Ensembl
Outerchr5:115511518..115511579hg38UCSC Ensembl
chr5:114847236..114847255hg19UCSC Ensembl
Innerchr5:114847234..114847257hg19UCSC Ensembl
Outerchr5:114847215..114847276hg19UCSC Ensembl
chr5:114875135..114875154hg18UCSC Ensembl
Innerchr5:114875156..114875133hg18UCSC Ensembl
Outerchr5:114875114..114875175hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438858
Supporting Variants
SamplesNA18489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926226
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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