A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688793



Internal ID15085424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112357637..112359035hg38UCSC Ensembl
Innerchr13:112358035..112358637hg38UCSC Ensembl
Outerchr13:112356637..112360035hg38UCSC Ensembl
chr13:113011951..113013349hg19UCSC Ensembl
Innerchr13:113012349..113012951hg19UCSC Ensembl
Outerchr13:113010951..113014349hg19UCSC Ensembl
chr13:112059952..112061350hg18UCSC Ensembl
Innerchr13:112060952..112060350hg18UCSC Ensembl
Outerchr13:112058952..112062350hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446971
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688793
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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