A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009127



Internal ID7059173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68862813..68866474hg38UCSC Ensembl
Outerchr14:69329530..69333191hg19UCSC Ensembl
Outerchr14:68399283..68402944hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382530
hg192530
hg182530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564274
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009127
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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