A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999683



Internal ID7082291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52992721..53005771hg38UCSC Ensembl
Outerchr3:53026737..53039787hg19UCSC Ensembl
Outerchr3:53001777..53014827hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3813051
hg1913051
hg1813051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565769
SamplesHuRef
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999683
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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