A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338146



Internal ID14838416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169977210..169977238hg38UCSC Ensembl
Innerchr3:169977222..169977224hg38UCSC Ensembl
Outerchr3:169977196..169977250hg38UCSC Ensembl
chr3:169694998..169695026hg19UCSC Ensembl
Innerchr3:169695010..169695012hg19UCSC Ensembl
Outerchr3:169694984..169695038hg19UCSC Ensembl
chr3:171177692..171177720hg18UCSC Ensembl
Innerchr3:171177704..171177706hg18UCSC Ensembl
Outerchr3:171177678..171177732hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8916504, essv8916503, essv8916501, essv8916505
SamplesNA18861, NA18916, NA19138, NA18523
Known GenesSEC62
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338146
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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