A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384515



Internal ID15231485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78887273..78888671hg38UCSC Ensembl
Innerchr5:78887671..78888273hg38UCSC Ensembl
Outerchr5:78886273..78889671hg38UCSC Ensembl
chr5:78183096..78184494hg19UCSC Ensembl
Innerchr5:78183494..78184096hg19UCSC Ensembl
Outerchr5:78182096..78185494hg19UCSC Ensembl
chr5:78218852..78220250hg18UCSC Ensembl
Innerchr5:78219852..78219250hg18UCSC Ensembl
Outerchr5:78217852..78221250hg18UCSC Ensembl
Cytoband5q14.1
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 Variantsessv8694963
SamplesNA19238
Known GenesARSB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384515
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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