A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426380



Internal ID15273337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:145805574..145805590hg38UCSC Ensembl
Innerchr3:145805569..145805592hg38UCSC Ensembl
Outerchr3:145805556..145805608hg38UCSC Ensembl
chr3:145523361..145523377hg19UCSC Ensembl
Innerchr3:145523356..145523379hg19UCSC Ensembl
Outerchr3:145523343..145523395hg19UCSC Ensembl
chr3:147006051..147006067hg18UCSC Ensembl
Innerchr3:147006069..147006046hg18UCSC Ensembl
Outerchr3:147006033..147006085hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675018, essv8675017
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426380
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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