A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8698693



Internal ID13677931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41298157..41298427hg38UCSC Ensembl
Innerchr13:41298217..41298358hg38UCSC Ensembl
Outerchr13:41298067..41298468hg38UCSC Ensembl
chr13:41872293..41872563hg19UCSC Ensembl
Innerchr13:41872353..41872494hg19UCSC Ensembl
Outerchr13:41872203..41872604hg19UCSC Ensembl
chr13:40770293..40770563hg18UCSC Ensembl
Innerchr13:40770353..40770494hg18UCSC Ensembl
Outerchr13:40770203..40770604hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378036
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8698693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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