A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994407



Internal ID6730362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70903004..70906652hg38UCSC Ensembl
Outerchr1:71368687..71372335hg19UCSC Ensembl
Outerchr1:71141275..71144923hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383972
hg193972
hg183972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565316
SamplesHuRef
Known GenesPTGER3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994407
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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