A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375351



Internal ID15222326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82462750..82462768hg38UCSC Ensembl
Innerchr13:82462757..82462761hg38UCSC Ensembl
Outerchr13:82462743..82462775hg38UCSC Ensembl
chr13:83036885..83036903hg19UCSC Ensembl
Innerchr13:83036892..83036896hg19UCSC Ensembl
Outerchr13:83036878..83036910hg19UCSC Ensembl
chr13:81934886..81934904hg18UCSC Ensembl
Innerchr13:81934893..81934897hg18UCSC Ensembl
Outerchr13:81934879..81934911hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865684, essv7865683
SamplesNA11992, NA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375351
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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