A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1414625



Internal ID12231061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88932252..88932252hg38UCSC Ensembl
chr16:88998660..88998660hg19UCSC Ensembl
chr16:87526161..87526161hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3817039
SamplesHuRef
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1414625
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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