A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865711



Internal ID14646073
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 StatusS
Merged Variantsesv3437666
Supporting Variants
SamplesNA18961
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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