A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696540



Internal ID15058303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133495309..133496807hg38UCSC Ensembl
Innerchr9:133495807..133496309hg38UCSC Ensembl
Outerchr9:133494309..133497807hg38UCSC Ensembl
chr9:136360431..136361929hg19UCSC Ensembl
Innerchr9:136360929..136361431hg19UCSC Ensembl
Outerchr9:136359431..136362929hg19UCSC Ensembl
chr9:135350252..135351750hg18UCSC Ensembl
Innerchr9:135351252..135350750hg18UCSC Ensembl
Outerchr9:135349252..135352750hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445467
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696540
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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