A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9625424



Internal ID13425643
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 StatusS
Merged Variantsesv3394005
Supporting Variants
SamplesNA12249
Known GenesTENM2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9625424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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