A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565733



Internal ID6690429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4674714..4678066hg38UCSC Ensembl
Outerchr1:4734774..4738126hg19UCSC Ensembl
Outerchr1:4634634..4637986hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383353
hg193353
hg183353
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009421
Supporting Variants
SamplesHuRef
Known GenesAJAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565733
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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