A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8960484



Internal ID14676063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53258089..53258118hg38UCSC Ensembl
Innerchr13:53258079..53258128hg38UCSC Ensembl
Outerchr13:53258050..53258157hg38UCSC Ensembl
chr13:53832224..53832253hg19UCSC Ensembl
Innerchr13:53832214..53832263hg19UCSC Ensembl
Outerchr13:53832185..53832292hg19UCSC Ensembl
chr13:52730225..52730254hg18UCSC Ensembl
Innerchr13:52730264..52730215hg18UCSC Ensembl
Outerchr13:52730186..52730293hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435924
Supporting Variants
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8960484
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