A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762457



Internal ID13878107
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 StatusS
Merged Variantsesv3303990
Supporting Variants
SamplesNA18577
Known GenesGARNL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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