A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402144



Internal ID14902420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388070..56388132hg38UCSC Ensembl
Innerchr20:56388079..56388121hg38UCSC Ensembl
Outerchr20:56388017..56388183hg38UCSC Ensembl
chr20:54963126..54963188hg19UCSC Ensembl
Innerchr20:54963135..54963177hg19UCSC Ensembl
Outerchr20:54963073..54963239hg19UCSC Ensembl
chr20:54396533..54396595hg18UCSC Ensembl
Innerchr20:54396584..54396542hg18UCSC Ensembl
Outerchr20:54396480..54396646hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670953, essv8670955, essv8670954
SamplesNA19238, NA12878, NA19240
Known GenesAURKA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402144
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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