A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8977424



Internal ID14855018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41271212..41271256hg38UCSC Ensembl
Innerchr21:41271231..41271235hg38UCSC Ensembl
Outerchr21:41271187..41271279hg38UCSC Ensembl
chr21:42643139..42643183hg19UCSC Ensembl
Innerchr21:42643158..42643162hg19UCSC Ensembl
Outerchr21:42643114..42643206hg19UCSC Ensembl
chr21:41565009..41565053hg18UCSC Ensembl
Innerchr21:41565032..41565028hg18UCSC Ensembl
Outerchr21:41564984..41565076hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3404742
Supporting Variants
SamplesNA19108
Known GenesBACE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8977424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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