A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563950



Internal ID6688333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:78869770..78872454hg38UCSC Ensembl
Outerchr4:79790924..79793608hg19UCSC Ensembl
Outerchr4:80009948..80012632hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg383912
hg193912
hg183912
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990407
Supporting Variants
SamplesHuRef
Known GenesBMP2K
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563950
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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