A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425598



Internal ID15272555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76315173..76351205hg38UCSC Ensembl
Innerchr5:76315191..76351187hg38UCSC Ensembl
Outerchr5:76315155..76351223hg38UCSC Ensembl
chr5:75610998..75647030hg19UCSC Ensembl
Innerchr5:75611016..75647012hg19UCSC Ensembl
Outerchr5:75610980..75647048hg19UCSC Ensembl
chr5:75646754..75682786hg18UCSC Ensembl
Innerchr5:75646772..75682768hg18UCSC Ensembl
Outerchr5:75646736..75682804hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3836033
hg1936033
hg1836033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671308
SamplesNA12891
Known GenesSV2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425598
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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