A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996264



Internal ID7063421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207608982..207616843hg38UCSC Ensembl
Outerchr2:208473706..208481567hg19UCSC Ensembl
Outerchr2:208181951..208189812hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387862
hg197862
hg187862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564719
SamplesHuRef
Known GenesMETTL21A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996264
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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