A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406416



Internal ID15253378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902678..120902684hg38UCSC Ensembl
Innerchr10:120902670..120902690hg38UCSC Ensembl
Outerchr10:120902664..120902696hg38UCSC Ensembl
chr10:122662190..122662196hg19UCSC Ensembl
Innerchr10:122662182..122662202hg19UCSC Ensembl
Outerchr10:122662176..122662208hg19UCSC Ensembl
chr10:122652180..122652186hg18UCSC Ensembl
Innerchr10:122652192..122652172hg18UCSC Ensembl
Outerchr10:122652166..122652198hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg386051
hg196051
hg186051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8950761, essv8950762, essv8950767, essv8950756, essv8950769, essv8950766, essv8950758, essv8950755, essv8950764, essv8950759, essv8950760, essv8950765, essv8950763
SamplesNA18508, NA18489, NA18516, NA18871, NA19114, NA18853, NA18523, NA19147, NA18501, NA19093, NA19102, NA18511, NA18522
Known GenesMIR5694, WDR11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406416
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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