A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1402978



Internal ID12219414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42883709..42883709hg38UCSC Ensembl
chr20:41512349..41512349hg19UCSC Ensembl
chr20:40945763..40945763hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4308287
SamplesHuRef
Known GenesPTPRT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1402978
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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