A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677448



Internal ID13730735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76836361..76836370hg38UCSC Ensembl
Innerchr9:76836354..76836377hg38UCSC Ensembl
Outerchr9:76836345..76836386hg38UCSC Ensembl
chr9:79451277..79451286hg19UCSC Ensembl
Innerchr9:79451270..79451293hg19UCSC Ensembl
Outerchr9:79451261..79451302hg19UCSC Ensembl
chr9:78641097..78641106hg18UCSC Ensembl
Innerchr9:78641113..78641090hg18UCSC Ensembl
Outerchr9:78641081..78641122hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439544
Supporting Variants
SamplesNA12892
Known GenesPRUNE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677448
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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