A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688926



Internal ID14701729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30716015..30717613hg38UCSC Ensembl
Innerchr13:30716613..30717015hg38UCSC Ensembl
Outerchr13:30715015..30718613hg38UCSC Ensembl
chr13:31290152..31291750hg19UCSC Ensembl
Innerchr13:31290750..31291152hg19UCSC Ensembl
Outerchr13:31289152..31292750hg19UCSC Ensembl
chr13:30188152..30189750hg18UCSC Ensembl
Innerchr13:30189152..30188750hg18UCSC Ensembl
Outerchr13:30187152..30190750hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3406702
Supporting Variants
SamplesNA19239
Known GenesALOX5AP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688926
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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