A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692730



Internal ID14686752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44523141..44525439hg38UCSC Ensembl
Innerchr21:44524141..44524439hg38UCSC Ensembl
Outerchr21:44522141..44526439hg38UCSC Ensembl
chr21:45943024..45945322hg19UCSC Ensembl
Innerchr21:45944024..45944322hg19UCSC Ensembl
Outerchr21:45942024..45946322hg19UCSC Ensembl
chr21:44767452..44769750hg18UCSC Ensembl
Innerchr21:44768452..44768750hg18UCSC Ensembl
Outerchr21:44766452..44770750hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433408
Supporting Variants
SamplesNA19238
Known GenesTSPEAR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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