A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696616



Internal ID15058505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:29452..36550hg38UCSC Ensembl
Innerchr9:30452..35550hg38UCSC Ensembl
Outerchr9:28452..37550hg38UCSC Ensembl
chr9:29452..36550hg19UCSC Ensembl
Innerchr9:30452..35550hg19UCSC Ensembl
Outerchr9:28452..37550hg19UCSC Ensembl
chr9:19452..26550hg18UCSC Ensembl
Innerchr9:20452..25550hg18UCSC Ensembl
Outerchr9:18452..27550hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg387099
hg197099
hg187099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353764
Supporting Variants
SamplesNA19239
Known GenesFAM138C, WASH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696616
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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