A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394936



Internal ID14895214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31764093..31764099hg38UCSC Ensembl
Innerchr20:31764095..31764097hg38UCSC Ensembl
Outerchr20:31764091..31764101hg38UCSC Ensembl
chr20:30351896..30351902hg19UCSC Ensembl
Innerchr20:30351898..30351900hg19UCSC Ensembl
Outerchr20:30351894..30351904hg19UCSC Ensembl
chr20:29815557..29815563hg18UCSC Ensembl
Innerchr20:29815559..29815561hg18UCSC Ensembl
Outerchr20:29815555..29815565hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866157, essv7866158
SamplesNA18520, NA18486
Known GenesTPX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394936
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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