A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736608



Internal ID12729326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75581364..75581986hg38UCSC Ensembl
Outerchr13:75581164..75582186hg38UCSC Ensembl
Innerchr13:76155500..76156122hg19UCSC Ensembl
Outerchr13:76155300..76156322hg19UCSC Ensembl
Innerchr13:75053501..75054123hg18UCSC Ensembl
Outerchr13:75053301..75054323hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381023
hg191023
hg181023
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302852
Supporting Variants
SamplesNA07347
Known GenesUCHL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736608
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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