A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1540743



Internal ID12357178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240452..1240452hg38UCSC Ensembl
chr4:1234240..1234240hg19UCSC Ensembl
chr4:1224240..1224240hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3813167
SamplesHuRef
Known GenesCTBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1540743
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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