A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303990



Internal ID14804252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127312492..127312493hg38UCSC Ensembl
Innerchr9:127312461..127312524hg38UCSC Ensembl
Outerchr9:127312460..127312525hg38UCSC Ensembl
chr9:130074771..130074772hg19UCSC Ensembl
Innerchr9:130074740..130074803hg19UCSC Ensembl
Outerchr9:130074739..130074804hg19UCSC Ensembl
chr9:129114592..129114593hg18UCSC Ensembl
Innerchr9:129114624..129114561hg18UCSC Ensembl
Outerchr9:129114560..129114625hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7757036, essv7743683, essv7745848, essv7742104, essv7748875, essv7762457
SamplesNA18550, NA18564, NA18961, NA18945, NA18577, NA18571
Known GenesGARNL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303990
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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