A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396861



Internal ID15243824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21689913..21690711hg38UCSC Ensembl
Innerchr13:21689912..21690712hg38UCSC Ensembl
Outerchr13:21688913..21691711hg38UCSC Ensembl
chr13:22264052..22264850hg19UCSC Ensembl
Innerchr13:22264051..22264851hg19UCSC Ensembl
Outerchr13:22263052..22265850hg19UCSC Ensembl
chr13:21162052..21162850hg18UCSC Ensembl
Innerchr13:21162851..21162051hg18UCSC Ensembl
Outerchr13:21161052..21163850hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688898
SamplesNA19239
Known GenesFGF9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396861
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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