A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692614



Internal ID14721958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63731356..63733254hg38UCSC Ensembl
Innerchr20:63732254..63732356hg38UCSC Ensembl
Outerchr20:63730356..63734254hg38UCSC Ensembl
chr20:62362708..62364606hg19UCSC Ensembl
Innerchr20:62363606..62363708hg19UCSC Ensembl
Outerchr20:62361708..62365606hg19UCSC Ensembl
chr20:61833152..61835050hg18UCSC Ensembl
Innerchr20:61834152..61834050hg18UCSC Ensembl
Outerchr20:61832152..61836050hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416210
Supporting Variants
SamplesNA19239
Known GenesZGPAT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692614
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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