A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653606



Internal ID14719188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101435435..101435435hg38UCSC Ensembl
Innerchr9:101435434..101435436hg38UCSC Ensembl
Outerchr9:101435385..101435485hg38UCSC Ensembl
chr9:104197717..104197717hg19UCSC Ensembl
Innerchr9:104197716..104197718hg19UCSC Ensembl
Outerchr9:104197667..104197767hg19UCSC Ensembl
chr9:103237538..103237538hg18UCSC Ensembl
Innerchr9:103237539..103237537hg18UCSC Ensembl
Outerchr9:103237488..103237588hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381423
hg191423
hg181423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3404834
Supporting Variants
SamplesNA19239
Known GenesALDOB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653606
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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