A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672582



Internal ID15030745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32072574..32072647hg38UCSC Ensembl
Innerchr13:32072583..32072638hg38UCSC Ensembl
Outerchr13:32072510..32072711hg38UCSC Ensembl
chr13:32646711..32646784hg19UCSC Ensembl
Innerchr13:32646720..32646775hg19UCSC Ensembl
Outerchr13:32646647..32646848hg19UCSC Ensembl
chr13:31544711..31544784hg18UCSC Ensembl
Innerchr13:31544775..31544720hg18UCSC Ensembl
Outerchr13:31544647..31544848hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373978
Supporting Variants
SamplesNA19238
Known GenesFRY
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672582
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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