A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994542



Internal ID7063103
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565422
SamplesHuRef
Known GenesEPHA8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994542
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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