A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4010904



Internal ID11404283
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1091719
Supporting Variants
SamplesHuRef
Known GenesFBXL14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4010904
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer