A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692613



Internal ID14766310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63731156..63733454hg38UCSC Ensembl
Innerchr20:63732156..63732454hg38UCSC Ensembl
Outerchr20:63730156..63734454hg38UCSC Ensembl
chr20:62362508..62364806hg19UCSC Ensembl
Innerchr20:62363508..62363806hg19UCSC Ensembl
Outerchr20:62361508..62365806hg19UCSC Ensembl
chr20:61832952..61835250hg18UCSC Ensembl
Innerchr20:61833952..61834250hg18UCSC Ensembl
Outerchr20:61831952..61836250hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440838
Supporting Variants
SamplesNA19240
Known GenesZGPAT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692613
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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