A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1213669



Internal ID12376792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123856057..123856057hg38UCSC Ensembl
chr8:124868297..124868297hg19UCSC Ensembl
chr8:124937478..124937478hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38189
hg19189
hg18189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3937408
SamplesHuRef
Known GenesFER1L6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1213669
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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