A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310068



Internal ID14810333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62574328..62574329hg38UCSC Ensembl
Innerchr3:62574310..62574347hg38UCSC Ensembl
Outerchr3:62574309..62574348hg38UCSC Ensembl
chr3:62560003..62560004hg19UCSC Ensembl
Innerchr3:62559985..62560022hg19UCSC Ensembl
Outerchr3:62559984..62560023hg19UCSC Ensembl
chr3:62535043..62535044hg18UCSC Ensembl
Innerchr3:62535062..62535025hg18UCSC Ensembl
Outerchr3:62535024..62535063hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841748, essv7842465
SamplesNA19238, NA19240
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310068
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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