A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303216



Internal ID14803478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:91296198..91296199hg38UCSC Ensembl
Innerchr9:91296173..91296224hg38UCSC Ensembl
Outerchr9:91296172..91296225hg38UCSC Ensembl
chr9:94058480..94058481hg19UCSC Ensembl
Innerchr9:94058455..94058506hg19UCSC Ensembl
Outerchr9:94058454..94058507hg19UCSC Ensembl
chr9:93098301..93098302hg18UCSC Ensembl
Innerchr9:93098327..93098276hg18UCSC Ensembl
Outerchr9:93098275..93098328hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38707
hg19707
hg18707
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749955, essv7757633, essv7756701, essv7746219, essv7761262, essv7748674, essv7752070, essv7755250, essv7740800, essv7754193, essv7748969, essv7747260, essv7762345, essv7757950, essv7753649, essv7750826, essv7757886, essv7744942, essv7748199, essv7752297, essv7751206, essv7745185, essv7761887, essv7753242, essv7748262, essv7740331, essv7760871, essv7753863, essv7743024, essv7756518
SamplesNA18605, NA18951, NA18952, NA18526, NA18570, NA18948, NA18947, NA18573, NA18608, NA18965, NA11919, NA12763, NA18566, NA12155, NA18576, NA18960, NA18563, NA18592, NA18638, NA18959, NA18973, NA11995, NA18537, NA18558, NA18942, NA18940, NA18582, NA18552, NA18577, NA18532
Known GenesAUH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303216
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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