A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302542



Internal ID15149489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33360597..33360737hg38UCSC Ensembl
Innerchr13:33360667..33360667hg38UCSC Ensembl
Outerchr13:33360497..33360837hg38UCSC Ensembl
chr13:33934734..33934874hg19UCSC Ensembl
Innerchr13:33934804..33934804hg19UCSC Ensembl
Outerchr13:33934634..33934974hg19UCSC Ensembl
chr13:32832734..32832874hg18UCSC Ensembl
Innerchr13:32832804..32832804hg18UCSC Ensembl
Outerchr13:32832634..32832974hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731221, essv7730847, essv7731631, essv7731168, essv7731502
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known GenesSTARD13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302542
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer