A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449507



Internal ID14949770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43603943..43606041hg38UCSC Ensembl
Innerchr21:43604943..43605041hg38UCSC Ensembl
Outerchr21:43602943..43607041hg38UCSC Ensembl
chr21:45023824..45025922hg19UCSC Ensembl
Innerchr21:45024824..45024922hg19UCSC Ensembl
Outerchr21:45022824..45026922hg19UCSC Ensembl
chr21:43848252..43850350hg18UCSC Ensembl
Innerchr21:43849252..43849350hg18UCSC Ensembl
Outerchr21:43847252..43851350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692722
SamplesNA19240
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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