A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161495



Internal ID7906209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39826035..40047821hg38UCSC Ensembl
Innerchr4:39827655..40049441hg19UCSC Ensembl
Innerchr4:39504050..39725836hg18UCSC Ensembl
Innerchr4:39650221..39872007hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38221787
hg19221787
hg18221787
hg17221787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422397
Supporting Variants
SamplesND01701
Known GenesLOC344967, PDS5A
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161495
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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