A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398155



Internal ID15245118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74317995..74318107hg38UCSC Ensembl
Innerchr5:74318001..74318098hg38UCSC Ensembl
Outerchr5:74317889..74318213hg38UCSC Ensembl
chr5:73613820..73613932hg19UCSC Ensembl
Innerchr5:73613826..73613923hg19UCSC Ensembl
Outerchr5:73613714..73614038hg19UCSC Ensembl
chr5:73649576..73649688hg18UCSC Ensembl
Innerchr5:73649679..73649582hg18UCSC Ensembl
Outerchr5:73649470..73649794hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924904, essv8924902, essv8924905, essv8924901
SamplesNA11931, NA12287, NA18499, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398155
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer