A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993892



Internal ID6729847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65381930..65382581hg38UCSC Ensembl
Outerchr4:66247648..66248299hg19UCSC Ensembl
Outerchr4:65930243..65930894hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg383986
hg193986
hg183986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564703
SamplesHuRef
Known GenesEPHA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993892
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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