A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565194



Internal ID7036576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113948677..113949256hg38UCSC Ensembl
Outerchr2:114706254..114706833hg19UCSC Ensembl
Outerchr2:114422724..114423303hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383954
hg193954
hg183954
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990446
Supporting Variants
SamplesHuRef
Known GenesACTR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565194
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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