A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1720969



Internal ID12537402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240459..1240459hg38UCSC Ensembl
chr4:1234247..1234247hg19UCSC Ensembl
chr4:1224247..1224247hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4107064
SamplesHuRef
Known GenesCTBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1720969
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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