A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741010



Internal ID15086070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36863330..36863564hg38UCSC Ensembl
Innerchr22:36863380..36863514hg38UCSC Ensembl
Outerchr22:36863280..36863614hg38UCSC Ensembl
chr22:37259372..37259606hg19UCSC Ensembl
Innerchr22:37259422..37259556hg19UCSC Ensembl
Outerchr22:37259322..37259656hg19UCSC Ensembl
chr22:35589318..35589552hg18UCSC Ensembl
Innerchr22:35589368..35589502hg18UCSC Ensembl
Outerchr22:35589268..35589602hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444959
Supporting Variants
SamplesNA19240
Known GenesNCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741010
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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