A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675898



Internal ID15049219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24150422..24150434hg38UCSC Ensembl
Innerchr5:24150413..24150443hg38UCSC Ensembl
Outerchr5:24150399..24150455hg38UCSC Ensembl
chr5:24150531..24150543hg19UCSC Ensembl
Innerchr5:24150522..24150552hg19UCSC Ensembl
Outerchr5:24150508..24150564hg19UCSC Ensembl
chr5:24186288..24186300hg18UCSC Ensembl
Innerchr5:24186309..24186279hg18UCSC Ensembl
Outerchr5:24186265..24186321hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345914
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675898
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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