A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571890



Internal ID7043272
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993506
Supporting Variants
SamplesHuRef
Known GenesDIRC3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571890
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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