A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565422



Internal ID7036804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22574893..22580151hg38UCSC Ensembl
Outerchr1:22901386..22906644hg19UCSC Ensembl
Outerchr1:22773973..22779231hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382351
hg192351
hg182351
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994542
Supporting Variants
SamplesHuRef
Known GenesEPHA8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565422
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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