A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692743



Internal ID15033476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45633410..45637008hg38UCSC Ensembl
Innerchr21:45634410..45636008hg38UCSC Ensembl
Outerchr21:45632410..45638008hg38UCSC Ensembl
chr21:47053324..47056922hg19UCSC Ensembl
Innerchr21:47054324..47055922hg19UCSC Ensembl
Outerchr21:47052324..47057922hg19UCSC Ensembl
chr21:45877752..45881350hg18UCSC Ensembl
Innerchr21:45878752..45880350hg18UCSC Ensembl
Outerchr21:45876752..45882350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415750
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692743
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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