A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410609



Internal ID14910883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62574340..62574353hg38UCSC Ensembl
Innerchr3:62574337..62574356hg38UCSC Ensembl
Outerchr3:62574324..62574369hg38UCSC Ensembl
chr3:62560015..62560028hg19UCSC Ensembl
Innerchr3:62560012..62560031hg19UCSC Ensembl
Outerchr3:62559999..62560044hg19UCSC Ensembl
chr3:62535055..62535068hg18UCSC Ensembl
Innerchr3:62535071..62535052hg18UCSC Ensembl
Outerchr3:62535039..62535084hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8913588, essv8913590, essv8913593, essv8913591, essv8913594, essv8913589
SamplesNA18517, NA19108, NA18912, NA18508, NA18916, NA18858
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410609
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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