A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988089



Internal ID6724063
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3580556
SamplesHuRef
Known GenesEPHA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988089
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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