A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383476



Internal ID14883752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154151273..154151292hg38UCSC Ensembl
Innerchr1:154151269..154151296hg38UCSC Ensembl
Outerchr1:154151250..154151315hg38UCSC Ensembl
chr1:154123749..154123768hg19UCSC Ensembl
Innerchr1:154123745..154123772hg19UCSC Ensembl
Outerchr1:154123726..154123791hg19UCSC Ensembl
chr1:152390373..152390392hg18UCSC Ensembl
Innerchr1:152390396..152390369hg18UCSC Ensembl
Outerchr1:152390350..152390415hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596434
SamplesNA19143
Known GenesNUP210L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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