A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696655



Internal ID13657458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39865234..39872032hg38UCSC Ensembl
Innerchr9:39866234..39871032hg38UCSC Ensembl
Outerchr9:39864234..39873032hg38UCSC Ensembl
chr9:42010252..42017050hg19UCSC Ensembl
Innerchr9:42011252..42016050hg19UCSC Ensembl
Outerchr9:42009252..42018050hg19UCSC Ensembl
chr9:42000252..42007050hg18UCSC Ensembl
Innerchr9:42001252..42006050hg18UCSC Ensembl
Outerchr9:41999252..42008050hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg386799
hg196799
hg186799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3358339
Supporting Variants
SamplesNA12878
Known GenesKGFLP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696655
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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