A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000689



Internal ID7065819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122600747..122618040hg38UCSC Ensembl
Outerchr10:124360263..124377556hg19UCSC Ensembl
Outerchr10:124350253..124367546hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3817294
hg1917294
hg1817294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565003
SamplesHuRef
Known GenesDMBT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000689
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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