A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306270



Internal ID15153218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128826789..128826790hg38UCSC Ensembl
Innerchr10:128826762..128826817hg38UCSC Ensembl
Outerchr10:128826761..128826818hg38UCSC Ensembl
chr10:130625053..130625054hg19UCSC Ensembl
Innerchr10:130625026..130625081hg19UCSC Ensembl
Outerchr10:130625025..130625082hg19UCSC Ensembl
chr10:130515043..130515044hg18UCSC Ensembl
Innerchr10:130515071..130515016hg18UCSC Ensembl
Outerchr10:130515015..130515072hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg386015
hg196015
hg186015
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762325, essv7744937, essv7760553, essv7749033, essv7757581, essv7742712, essv7745084
SamplesNA18545, NA18944, NA18582, NA18964, NA18973, NA18552, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306270
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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