A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411144



Internal ID15258104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172596444..172597842hg38UCSC Ensembl
Innerchr5:172596842..172597444hg38UCSC Ensembl
Outerchr5:172595444..172598842hg38UCSC Ensembl
chr5:172023447..172024845hg19UCSC Ensembl
Innerchr5:172023845..172024447hg19UCSC Ensembl
Outerchr5:172022447..172025845hg19UCSC Ensembl
chr5:171956052..171957450hg18UCSC Ensembl
Innerchr5:171957052..171956450hg18UCSC Ensembl
Outerchr5:171955052..171958450hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694643
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411144
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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