A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307144



Internal ID15154092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76716033..76716034hg38UCSC Ensembl
Innerchr9:76716002..76716065hg38UCSC Ensembl
Outerchr9:76716001..76716066hg38UCSC Ensembl
chr9:79330949..79330950hg19UCSC Ensembl
Innerchr9:79330918..79330981hg19UCSC Ensembl
Outerchr9:79330917..79330982hg19UCSC Ensembl
chr9:78520769..78520770hg18UCSC Ensembl
Innerchr9:78520801..78520738hg18UCSC Ensembl
Outerchr9:78520737..78520802hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749768, essv7748680, essv7749195, essv7742227, essv7754215, essv7762343, essv7757565
SamplesNA18519, NA18582, NA18956, NA18856, NA18952, NA19093, NA18577
Known GenesPRUNE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307144
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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