A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1091719



Internal ID11908157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1574526..1574526hg38UCSC Ensembl
chr12:1683692..1683692hg19UCSC Ensembl
chr12:1553953..1553953hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4010904
SamplesHuRef
Known GenesFBXL14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1091719
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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