A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336476



Internal ID15183464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70125753..70125753hg38UCSC Ensembl
Innerchr3:70125752..70125754hg38UCSC Ensembl
Outerchr3:70125703..70125803hg38UCSC Ensembl
chr3:70174904..70174904hg19UCSC Ensembl
Innerchr3:70174903..70174905hg19UCSC Ensembl
Outerchr3:70174854..70174954hg19UCSC Ensembl
chr3:70257594..70257594hg18UCSC Ensembl
Innerchr3:70257595..70257593hg18UCSC Ensembl
Outerchr3:70257544..70257644hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381523
hg191523
hg181523
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741103
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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