A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696632



Internal ID15058666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62143047..62147042hg38UCSC Ensembl
Innerchr9:62144047..62146042hg38UCSC Ensembl
Outerchr9:62142047..62148043hg38UCSC Ensembl
chr9:40180152..40184150hg19UCSC Ensembl
Innerchr9:40181152..40183150hg19UCSC Ensembl
Outerchr9:40179152..40185150hg19UCSC Ensembl
chr9:40170152..40174150hg18UCSC Ensembl
Innerchr9:40171152..40173150hg18UCSC Ensembl
Outerchr9:40169152..40175150hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg383996
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3385353
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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