A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383482



Internal ID14883758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4647167..4647195hg38UCSC Ensembl
Innerchr3:4647169..4647193hg38UCSC Ensembl
Outerchr3:4647165..4647197hg38UCSC Ensembl
chr3:4688851..4688879hg19UCSC Ensembl
Innerchr3:4688853..4688877hg19UCSC Ensembl
Outerchr3:4688849..4688881hg19UCSC Ensembl
chr3:4663851..4663879hg18UCSC Ensembl
Innerchr3:4663853..4663877hg18UCSC Ensembl
Outerchr3:4663849..4663881hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864105
SamplesNA12005
Known GenesITPR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383482
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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