A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329673



Internal ID15176659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40461138..40466436hg38UCSC Ensembl
Innerchr9:40462138..40465436hg38UCSC Ensembl
Outerchr9:40460138..40467436hg38UCSC Ensembl
chr9:42606156..42611454hg19UCSC Ensembl
Innerchr9:42607156..42610454hg19UCSC Ensembl
Outerchr9:42605156..42612454hg19UCSC Ensembl
chr9:42596152..42601450hg18UCSC Ensembl
Innerchr9:42597152..42600450hg18UCSC Ensembl
Outerchr9:42595152..42602450hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385299
hg195299
hg185299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696745
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329673
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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