A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350926



Internal ID15197907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6868515..6868773hg38UCSC Ensembl
Innerchr5:6868565..6868723hg38UCSC Ensembl
Outerchr5:6868465..6868823hg38UCSC Ensembl
chr5:6868628..6868886hg19UCSC Ensembl
Innerchr5:6868678..6868836hg19UCSC Ensembl
Outerchr5:6868578..6868936hg19UCSC Ensembl
chr5:6921628..6921886hg18UCSC Ensembl
Innerchr5:6921678..6921836hg18UCSC Ensembl
Outerchr5:6921578..6921936hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741199
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350926
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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