A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437666



Internal ID15284619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111425670..111425670hg38UCSC Ensembl
Innerchr13:111425668..111425672hg38UCSC Ensembl
Outerchr13:111425668..111425672hg38UCSC Ensembl
chr13:112078017..112078017hg19UCSC Ensembl
Innerchr13:112078015..112078019hg19UCSC Ensembl
Outerchr13:112078015..112078019hg19UCSC Ensembl
chr13:110876018..110876018hg18UCSC Ensembl
Innerchr13:110876020..110876016hg18UCSC Ensembl
Outerchr13:110876016..110876020hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865710, essv7865711
SamplesNA19172, NA18961
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437666
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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