A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394005



Internal ID15240970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167364094..167364113hg38UCSC Ensembl
Innerchr5:167364090..167364117hg38UCSC Ensembl
Outerchr5:167364071..167364136hg38UCSC Ensembl
chr5:166791099..166791118hg19UCSC Ensembl
Innerchr5:166791095..166791122hg19UCSC Ensembl
Outerchr5:166791076..166791141hg19UCSC Ensembl
chr5:166723677..166723696hg18UCSC Ensembl
Innerchr5:166723700..166723673hg18UCSC Ensembl
Outerchr5:166723654..166723719hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9625424
SamplesNA12249
Known GenesTENM2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394005
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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