A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397810



Internal ID14898087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43957943..43959741hg38UCSC Ensembl
Innerchr21:43958741..43958943hg38UCSC Ensembl
Outerchr21:43956943..43960741hg38UCSC Ensembl
chr21:45377824..45379622hg19UCSC Ensembl
Innerchr21:45378622..45378824hg19UCSC Ensembl
Outerchr21:45376824..45380622hg19UCSC Ensembl
chr21:44202252..44204050hg18UCSC Ensembl
Innerchr21:44203252..44203050hg18UCSC Ensembl
Outerchr21:44201252..44205050hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692724
SamplesNA19240
Known GenesAGPAT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397810
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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