A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738691



Internal ID13847837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51348773..51348774hg38UCSC Ensembl
Outerchr13:51348591..51348956hg38UCSC Ensembl
Innerchr13:51922909..51922910hg19UCSC Ensembl
Outerchr13:51922727..51923092hg19UCSC Ensembl
Innerchr13:50820911..50820910hg18UCSC Ensembl
Outerchr13:50820728..50821093hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38366
hg19366
hg18366
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302761
Supporting Variants
SamplesNA18510
Known GenesMIR5693, SERPINE3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738691
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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