A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994231



Internal ID7063026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141999718..142000226hg38UCSC Ensembl
Outerchr5:141379283..141379791hg19UCSC Ensembl
Outerchr5:141359467..141359975hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383904
hg193904
hg183904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564789
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994231
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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