A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323794



Internal ID15170769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43376686..43376742hg38UCSC Ensembl
Innerchr1:43376701..43376725hg38UCSC Ensembl
Outerchr1:43376645..43376781hg38UCSC Ensembl
chr1:43842357..43842413hg19UCSC Ensembl
Innerchr1:43842372..43842396hg19UCSC Ensembl
Outerchr1:43842316..43842452hg19UCSC Ensembl
chr1:43614944..43615000hg18UCSC Ensembl
Innerchr1:43614983..43614959hg18UCSC Ensembl
Outerchr1:43614903..43615039hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8898900
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323794
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