A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731221



Internal ID15045398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33360598..33360737hg38UCSC Ensembl
Innerchr13:33360667..33360668hg38UCSC Ensembl
Outerchr13:33360498..33360837hg38UCSC Ensembl
chr13:33934735..33934874hg19UCSC Ensembl
Innerchr13:33934804..33934805hg19UCSC Ensembl
Outerchr13:33934635..33934974hg19UCSC Ensembl
chr13:32832735..32832874hg18UCSC Ensembl
Innerchr13:32832805..32832804hg18UCSC Ensembl
Outerchr13:32832635..32832974hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302542
Supporting Variants
SamplesNA19239
Known GenesSTARD13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731221
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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