A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696718



Internal ID13705792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40324438..40327836hg38UCSC Ensembl
Innerchr9:40325438..40326836hg38UCSC Ensembl
Outerchr9:40323438..40328836hg38UCSC Ensembl
chr9:42469456..42472854hg19UCSC Ensembl
Innerchr9:42470456..42471854hg19UCSC Ensembl
Outerchr9:42468456..42473854hg19UCSC Ensembl
chr9:42459452..42462850hg18UCSC Ensembl
Innerchr9:42460452..42461850hg18UCSC Ensembl
Outerchr9:42458452..42463850hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3434522
Supporting Variants
SamplesNA12891
Known GenesFAM95B1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696718
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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