A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8914435



Internal ID14823831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:103264968..103265016hg38UCSC Ensembl
Innerchr3:103264959..103265023hg38UCSC Ensembl
Outerchr3:103264911..103265071hg38UCSC Ensembl
chr3:102983812..102983860hg19UCSC Ensembl
Innerchr3:102983803..102983867hg19UCSC Ensembl
Outerchr3:102983755..102983915hg19UCSC Ensembl
chr3:104466502..104466550hg18UCSC Ensembl
Innerchr3:104466557..104466493hg18UCSC Ensembl
Outerchr3:104466445..104466605hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343670
Supporting Variants
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8914435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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