A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998123



Internal ID7081526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151045540..151045895hg38UCSC Ensembl
Outerchr2:151902054..151902409hg19UCSC Ensembl
Outerchr2:151610300..151610655hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38356
hg19356
hg18356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565819
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998123
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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