A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354076



Internal ID14854340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29490815..29493213hg38UCSC Ensembl
Innerchr13:29491815..29492213hg38UCSC Ensembl
Outerchr13:29489815..29494213hg38UCSC Ensembl
chr13:30064952..30067350hg19UCSC Ensembl
Innerchr13:30065952..30066350hg19UCSC Ensembl
Outerchr13:30063952..30068350hg19UCSC Ensembl
chr13:28962952..28965350hg18UCSC Ensembl
Innerchr13:28963952..28964350hg18UCSC Ensembl
Outerchr13:28961952..28966350hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688918
SamplesNA19240
Known GenesMTUS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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