A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007053



Internal ID7072146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20706945..20710065hg38UCSC Ensembl
Outerchr14:21175104..21178224hg19UCSC Ensembl
Outerchr14:20244944..20248064hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383020
hg193020
hg183020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565774
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007053
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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