A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406011



Internal ID14906287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37137992..37138055hg38UCSC Ensembl
Innerchr21:37137988..37138059hg38UCSC Ensembl
Outerchr21:37137925..37138122hg38UCSC Ensembl
chr21:38510292..38510355hg19UCSC Ensembl
Innerchr21:38510288..38510359hg19UCSC Ensembl
Outerchr21:38510225..38510422hg19UCSC Ensembl
chr21:37432162..37432225hg18UCSC Ensembl
Innerchr21:37432229..37432158hg18UCSC Ensembl
Outerchr21:37432095..37432292hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977296, essv8977297, essv8977293, essv8977299, essv8977294, essv8977300, essv8977298, essv8977295
SamplesNA18861, NA11931, NA12287, NA18499, NA19225, NA19108, NA18517, NA18505
Known GenesTTC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406011
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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