A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427172



Internal ID14927442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11152347..11152463hg38UCSC Ensembl
Innerchr1:11152382..11152425hg38UCSC Ensembl
Outerchr1:11152269..11152541hg38UCSC Ensembl
chr1:11212404..11212520hg19UCSC Ensembl
Innerchr1:11212439..11212482hg19UCSC Ensembl
Outerchr1:11212326..11212598hg19UCSC Ensembl
chr1:11134991..11135107hg18UCSC Ensembl
Innerchr1:11135069..11135026hg18UCSC Ensembl
Outerchr1:11134913..11135185hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8898624, essv8898626, essv8898623
SamplesNA18871, NA18916, NA19005
Known GenesMTOR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427172
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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