A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563947



Internal ID7035047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168864228..168871794hg38UCSC Ensembl
Outerchr2:169720738..169728304hg19UCSC Ensembl
Outerchr2:169428984..169436550hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3814992
hg1914992
hg1814992
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999271
Supporting Variants
SamplesHuRef
Known GenesNOSTRIN, SPC25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563947
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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