A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696716



Internal ID13731565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40319238..40344636hg38UCSC Ensembl
Innerchr9:40320238..40343636hg38UCSC Ensembl
Outerchr9:40318238..40345636hg38UCSC Ensembl
chr9:42464256..42489654hg19UCSC Ensembl
Innerchr9:42465256..42488654hg19UCSC Ensembl
Outerchr9:42463256..42490654hg19UCSC Ensembl
chr9:42454252..42479650hg18UCSC Ensembl
Innerchr9:42455252..42478650hg18UCSC Ensembl
Outerchr9:42453252..42480650hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3825399
hg1925399
hg1825399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3451906
Supporting Variants
SamplesNA12892
Known GenesFAM95B1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696716
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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