A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564827



Internal ID7035927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:104146815..104156813hg38UCSC Ensembl
Outerchr1:104689437..104699435hg19UCSC Ensembl
Outerchr1:104490960..104500958hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg389999
hg199999
hg189999
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999353
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564827
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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