A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697425



Internal ID14758583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90840849..90842947hg38UCSC Ensembl
Innerchr9:90841849..90841947hg38UCSC Ensembl
Outerchr9:90839849..90843947hg38UCSC Ensembl
chr9:93603131..93605229hg19UCSC Ensembl
Innerchr9:93604131..93604229hg19UCSC Ensembl
Outerchr9:93602131..93606229hg19UCSC Ensembl
chr9:92642952..92645050hg18UCSC Ensembl
Innerchr9:92643952..92644050hg18UCSC Ensembl
Outerchr9:92641952..92646050hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411483
Supporting Variants
SamplesNA19240
Known GenesSYK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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