A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574561



Internal ID7045943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14347034..14347034hg38UCSC Ensembl
chr5:14347143..14347143hg19UCSC Ensembl
chr5:14400143..14400143hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007471
Supporting Variants
SamplesHuRef
Known GenesTRIO
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574561
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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