A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688828



Internal ID14739168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113446336..113447734hg38UCSC Ensembl
Innerchr13:113446734..113447336hg38UCSC Ensembl
Outerchr13:113445336..113448734hg38UCSC Ensembl
chr13:114100651..114102049hg19UCSC Ensembl
Innerchr13:114101049..114101651hg19UCSC Ensembl
Outerchr13:114099651..114103049hg19UCSC Ensembl
chr13:113148652..113150050hg18UCSC Ensembl
Innerchr13:113149652..113149050hg18UCSC Ensembl
Outerchr13:113147652..113151050hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367356
Supporting Variants
SamplesNA19240
Known GenesADPRHL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688828
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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