A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419690



Internal ID15266648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37866966..37866981hg38UCSC Ensembl
Innerchr13:37866963..37866984hg38UCSC Ensembl
Outerchr13:37866948..37866999hg38UCSC Ensembl
chr13:38441103..38441118hg19UCSC Ensembl
Innerchr13:38441100..38441121hg19UCSC Ensembl
Outerchr13:38441085..38441136hg19UCSC Ensembl
chr13:37339103..37339118hg18UCSC Ensembl
Innerchr13:37339121..37339100hg18UCSC Ensembl
Outerchr13:37339085..37339136hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959945, essv8959950, essv8959952, essv8959947, essv8959953, essv8959946, essv8959943, essv8959949, essv8959944, essv8959942, essv8959951
SamplesNA18502, NA18861, NA18508, NA18504, NA18870, NA18510, NA18907, NA19099, NA18909, NA18501, NA19093
Known GenesTRPC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419690
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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