A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688951



Internal ID15048815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41540816..41543114hg38UCSC Ensembl
Innerchr13:41541816..41542114hg38UCSC Ensembl
Outerchr13:41539816..41544114hg38UCSC Ensembl
chr13:42114952..42117250hg19UCSC Ensembl
Innerchr13:42115952..42116250hg19UCSC Ensembl
Outerchr13:42113952..42118250hg19UCSC Ensembl
chr13:41012952..41015250hg18UCSC Ensembl
Innerchr13:41013952..41014250hg18UCSC Ensembl
Outerchr13:41011952..41016250hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393340
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688951
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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