A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697424



Internal ID14681978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90840849..90842847hg38UCSC Ensembl
Innerchr9:90841847..90841849hg38UCSC Ensembl
Outerchr9:90839849..90843847hg38UCSC Ensembl
chr9:93603131..93605129hg19UCSC Ensembl
Innerchr9:93604129..93604131hg19UCSC Ensembl
Outerchr9:93602131..93606129hg19UCSC Ensembl
chr9:92642952..92644950hg18UCSC Ensembl
Innerchr9:92643952..92643950hg18UCSC Ensembl
Outerchr9:92641952..92645950hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433405
Supporting Variants
SamplesNA19238
Known GenesSYK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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