A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353111



Internal ID15200092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45802865..45802873hg38UCSC Ensembl
Innerchr20:45802857..45802879hg38UCSC Ensembl
Outerchr20:45802849..45802889hg38UCSC Ensembl
chr20:44431504..44431512hg19UCSC Ensembl
Innerchr20:44431496..44431518hg19UCSC Ensembl
Outerchr20:44431488..44431528hg19UCSC Ensembl
chr20:43864911..43864919hg18UCSC Ensembl
Innerchr20:43864925..43864903hg18UCSC Ensembl
Outerchr20:43864895..43864935hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674241, essv8674243
SamplesNA19239, NA19240
Known GenesDNTTIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353111
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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