A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7764699



Internal ID13419880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358325..78358326hg38UCSC Ensembl
Innerchr5:78358303..78358348hg38UCSC Ensembl
Outerchr5:78358302..78358349hg38UCSC Ensembl
chr5:77654149..77654150hg19UCSC Ensembl
Innerchr5:77654127..77654172hg19UCSC Ensembl
Outerchr5:77654126..77654173hg19UCSC Ensembl
chr5:77689905..77689906hg18UCSC Ensembl
Innerchr5:77689928..77689883hg18UCSC Ensembl
Outerchr5:77689882..77689929hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38315
hg19315
hg18315
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304358
Supporting Variants
SamplesNA12234
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7764699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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