A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675401



Internal ID13694902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133675252..133675275hg38UCSC Ensembl
Innerchr4:133675261..133675266hg38UCSC Ensembl
Outerchr4:133675238..133675289hg38UCSC Ensembl
chr4:134596407..134596430hg19UCSC Ensembl
Innerchr4:134596416..134596421hg19UCSC Ensembl
Outerchr4:134596393..134596444hg19UCSC Ensembl
chr4:134815857..134815880hg18UCSC Ensembl
Innerchr4:134815871..134815866hg18UCSC Ensembl
Outerchr4:134815843..134815894hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38390
hg19390
hg18390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330852
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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