A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421509



Internal ID14921781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111639404..111639426hg38UCSC Ensembl
Innerchr1:111639403..111639425hg38UCSC Ensembl
Outerchr1:111639381..111639449hg38UCSC Ensembl
chr1:112182026..112182048hg19UCSC Ensembl
Innerchr1:112182025..112182047hg19UCSC Ensembl
Outerchr1:112182003..112182071hg19UCSC Ensembl
chr1:111983549..111983571hg18UCSC Ensembl
Innerchr1:111983570..111983548hg18UCSC Ensembl
Outerchr1:111983526..111983594hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381558
hg191558
hg181558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901047, essv8901050, essv8901054, essv8901057, essv8901055, essv8901052, essv8901049, essv8901058, essv8901053, essv8901056, essv8901051
SamplesNA18523, NA18952, NA18973, NA12716, NA18858, NA18552, NA19138, NA18909, NA19116, NA11830, NA12003
Known GenesRAP1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421509
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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