A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993506



Internal ID7062418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217752697..217752752hg38UCSC Ensembl
chr2:218617420..218617475hg19UCSC Ensembl
chr2:218325665..218325720hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571890
SamplesHuRef
Known GenesDIRC3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993506
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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