A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302864



Internal ID15149812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113600647..113614720hg38UCSC Ensembl
Innerchr5:113600747..113614620hg38UCSC Ensembl
Outerchr5:113600547..113614820hg38UCSC Ensembl
chr5:112936344..112950417hg19UCSC Ensembl
Innerchr5:112936444..112950317hg19UCSC Ensembl
Outerchr5:112936244..112950517hg19UCSC Ensembl
chr5:112964243..112978316hg18UCSC Ensembl
Innerchr5:112964343..112978216hg18UCSC Ensembl
Outerchr5:112964143..112978416hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3814074
hg1914074
hg1814074
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736395
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302864
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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