A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161248



Internal ID7905962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65582828..65694176hg38UCSC Ensembl
Innerchr4:66448546..66559894hg19UCSC Ensembl
Innerchr4:66131141..66242489hg18UCSC Ensembl
Innerchr4:66277312..66388660hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38111349
hg19111349
hg18111349
hg17111349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422517
Supporting Variants
SamplesND01672
Known GenesEPHA5, LOC100144602
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161248
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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