A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688927



Internal ID15048567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30829215..30831113hg38UCSC Ensembl
Innerchr13:30830113..30830215hg38UCSC Ensembl
Outerchr13:30828215..30832113hg38UCSC Ensembl
chr13:31403352..31405250hg19UCSC Ensembl
Innerchr13:31404250..31404352hg19UCSC Ensembl
Outerchr13:31402352..31406250hg19UCSC Ensembl
chr13:30301352..30303250hg18UCSC Ensembl
Innerchr13:30302352..30302250hg18UCSC Ensembl
Outerchr13:30300352..30304250hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423526
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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