A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350275



Internal ID15197257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75540415..75545513hg38UCSC Ensembl
Innerchr13:75541415..75544513hg38UCSC Ensembl
Outerchr13:75539415..75546513hg38UCSC Ensembl
chr13:76114551..76119649hg19UCSC Ensembl
Innerchr13:76115551..76118649hg19UCSC Ensembl
Outerchr13:76113551..76120649hg19UCSC Ensembl
chr13:75012552..75017650hg18UCSC Ensembl
Innerchr13:75013552..75016650hg18UCSC Ensembl
Outerchr13:75011552..75018650hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1049e59
Supporting Variantsessv8689000
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350275
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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