A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995811



Internal ID6731759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47426919..47426997hg38UCSC Ensembl
chr2:47654058..47654136hg19UCSC Ensembl
chr2:47507562..47507640hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569986
SamplesHuRef
Known GenesMSH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995811
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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