A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991671



Internal ID7077460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28458288..28459277hg38UCSC Ensembl
Outerchr2:28681155..28682144hg19UCSC Ensembl
Outerchr2:28534659..28535648hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38990
hg19990
hg18990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564234
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991671
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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