A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402039



Internal ID14902315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99272897..99274495hg38UCSC Ensembl
Innerchr13:99273495..99273897hg38UCSC Ensembl
Outerchr13:99271897..99275495hg38UCSC Ensembl
chr13:99925151..99926749hg19UCSC Ensembl
Innerchr13:99925749..99926151hg19UCSC Ensembl
Outerchr13:99924151..99927749hg19UCSC Ensembl
chr13:98723152..98724750hg18UCSC Ensembl
Innerchr13:98724152..98723750hg18UCSC Ensembl
Outerchr13:98722152..98725750hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689012
SamplesNA19239
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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