A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563591



Internal ID7036351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161737522..161744654hg38UCSC Ensembl
Outerchr1:161707312..161714444hg19UCSC Ensembl
Outerchr1:159973936..159981068hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387133
hg197133
hg187133
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005615
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563591
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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