A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307519



Internal ID15154467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76996783..76996784hg38UCSC Ensembl
Innerchr9:76996746..76996821hg38UCSC Ensembl
Outerchr9:76996745..76996822hg38UCSC Ensembl
chr9:79611699..79611700hg19UCSC Ensembl
Innerchr9:79611662..79611737hg19UCSC Ensembl
Outerchr9:79611661..79611738hg19UCSC Ensembl
chr9:78801519..78801520hg18UCSC Ensembl
Innerchr9:78801557..78801482hg18UCSC Ensembl
Outerchr9:78801481..78801558hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754990
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307519
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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