A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580556



Internal ID6705252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65604086..65604086hg38UCSC Ensembl
chr4:66469804..66469804hg19UCSC Ensembl
chr4:66152399..66152399hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988089
Supporting Variants
SamplesHuRef
Known GenesEPHA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580556
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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