A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3818408



Internal ID11596777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1666383..1666383hg38UCSC Ensembl
chr4:1668110..1668110hg19UCSC Ensembl
chr4:1637908..1637908hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1444353
Supporting Variants
SamplesHuRef
Known GenesFAM53A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3818408
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