A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8943868



Internal ID14043763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17700042..17700055hg38UCSC Ensembl
Innerchr9:17700039..17700058hg38UCSC Ensembl
Outerchr9:17700026..17700071hg38UCSC Ensembl
chr9:17700040..17700053hg19UCSC Ensembl
Innerchr9:17700037..17700056hg19UCSC Ensembl
Outerchr9:17700024..17700069hg19UCSC Ensembl
chr9:17690040..17690053hg18UCSC Ensembl
Innerchr9:17690056..17690037hg18UCSC Ensembl
Outerchr9:17690024..17690069hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389753
Supporting Variants
SamplesNA18555
Known GenesSH3GL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8943868
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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