A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994212



Internal ID6730167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28270893..28280959hg38UCSC Ensembl
Outerchr1:28597404..28607470hg19UCSC Ensembl
Outerchr1:28469991..28480057hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3810067
hg1910067
hg1810067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564064
SamplesHuRef
Known GenesSESN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994212
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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