A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351931



Internal ID15198912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47582003..47582022hg38UCSC Ensembl
Innerchr1:47581999..47582026hg38UCSC Ensembl
Outerchr1:47581980..47582045hg38UCSC Ensembl
chr1:48047675..48047694hg19UCSC Ensembl
Innerchr1:48047671..48047698hg19UCSC Ensembl
Outerchr1:48047652..48047717hg19UCSC Ensembl
chr1:47820262..47820281hg18UCSC Ensembl
Innerchr1:47820285..47820258hg18UCSC Ensembl
Outerchr1:47820239..47820304hg18UCSC Ensembl
Cytoband1p33
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 Variantsessv9594224
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351931
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer