A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837143



Internal ID15038482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32072534..32072535hg38UCSC Ensembl
Innerchr13:32072436..32072633hg38UCSC Ensembl
Outerchr13:32072435..32072634hg38UCSC Ensembl
chr13:32646671..32646672hg19UCSC Ensembl
Innerchr13:32646573..32646770hg19UCSC Ensembl
Outerchr13:32646572..32646771hg19UCSC Ensembl
chr13:31544671..31544672hg18UCSC Ensembl
Innerchr13:31544770..31544573hg18UCSC Ensembl
Outerchr13:31544572..31544771hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310190
Supporting Variants
SamplesNA19239
Known GenesFRY
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837143
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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