A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692725



Internal ID14722550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43973843..43975441hg38UCSC Ensembl
Innerchr21:43974441..43974843hg38UCSC Ensembl
Outerchr21:43972843..43976441hg38UCSC Ensembl
chr21:45393724..45395322hg19UCSC Ensembl
Innerchr21:45394322..45394724hg19UCSC Ensembl
Outerchr21:45392724..45396322hg19UCSC Ensembl
chr21:44218152..44219750hg18UCSC Ensembl
Innerchr21:44219152..44218750hg18UCSC Ensembl
Outerchr21:44217152..44220750hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337810
Supporting Variants
SamplesNA19239
Known GenesAGPAT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692725
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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