A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305973



Internal ID15152921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32013233..32013234hg38UCSC Ensembl
Innerchr21:32013206..32013261hg38UCSC Ensembl
Outerchr21:32013205..32013262hg38UCSC Ensembl
chr21:33385546..33385547hg19UCSC Ensembl
Innerchr21:33385519..33385574hg19UCSC Ensembl
Outerchr21:33385518..33385575hg19UCSC Ensembl
chr21:32307417..32307418hg18UCSC Ensembl
Innerchr21:32307445..32307390hg18UCSC Ensembl
Outerchr21:32307389..32307446hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743214, essv7754785, essv7749797, essv7746169, essv7755678, essv7754168, essv7759119, essv7760252, essv7744875, essv7742196, essv7758361, essv7743880, essv7752825, essv7753388, essv7758482, essv7747178, essv7750111
SamplesNA18861, NA18508, NA19190, NA18519, NA18916, NA19239, NA19114, NA18853, NA19099, NA18909, NA19108, NA19240, NA18501, NA19093, NA18505, NA18511, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305973
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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