A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305638



Internal ID15152586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902679..120902680hg38UCSC Ensembl
Innerchr10:120902654..120902705hg38UCSC Ensembl
Outerchr10:120902653..120902706hg38UCSC Ensembl
chr10:122662191..122662192hg19UCSC Ensembl
Innerchr10:122662166..122662217hg19UCSC Ensembl
Outerchr10:122662165..122662218hg19UCSC Ensembl
chr10:122652181..122652182hg18UCSC Ensembl
Innerchr10:122652207..122652156hg18UCSC Ensembl
Outerchr10:122652155..122652208hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg386051
hg196051
hg186051
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754994, essv7759118, essv7747009, essv7741343, essv7758305, essv7760140, essv7745470, essv7754009, essv7743844, essv7749802, essv7749374, essv7762254, essv7755831
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)esv3305638
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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