A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4081567



Internal ID11680308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6321542..6321542hg38UCSC Ensembl
chr5:6321655..6321655hg19UCSC Ensembl
chr5:6374655..6374655hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381058
hg191058
hg181058
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1026263
Supporting Variants
SamplesHuRef
Known GenesFLJ33360
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4081567
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