A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000820



Internal ID7065949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124729380..124738866hg38UCSC Ensembl
Outerchr10:126417949..126427435hg19UCSC Ensembl
Outerchr10:126407939..126417425hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg389487
hg199487
hg189487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564798
SamplesHuRef
Known GenesFAM53B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000820
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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