A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309043



Internal ID15155992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41271206..41271207hg38UCSC Ensembl
Innerchr21:41271167..41271246hg38UCSC Ensembl
Outerchr21:41271166..41271247hg38UCSC Ensembl
chr21:42643133..42643134hg19UCSC Ensembl
Innerchr21:42643094..42643173hg19UCSC Ensembl
Outerchr21:42643093..42643174hg19UCSC Ensembl
chr21:41565003..41565004hg18UCSC Ensembl
Innerchr21:41565043..41564964hg18UCSC Ensembl
Outerchr21:41564963..41565044hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838284
SamplesNA12891
Known GenesBACE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309043
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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