A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677280



Internal ID13704469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100461119..100461137hg38UCSC Ensembl
Innerchr9:100461123..100461131hg38UCSC Ensembl
Outerchr9:100461105..100461151hg38UCSC Ensembl
chr9:103223401..103223419hg19UCSC Ensembl
Innerchr9:103223405..103223413hg19UCSC Ensembl
Outerchr9:103223387..103223433hg19UCSC Ensembl
chr9:102263222..102263240hg18UCSC Ensembl
Innerchr9:102263234..102263226hg18UCSC Ensembl
Outerchr9:102263208..102263254hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3408660
Supporting Variants
SamplesNA12891
Known GenesMSANTD3-TMEFF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677280
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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