A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000822



Internal ID6712964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80485881..80489235hg38UCSC Ensembl
Outerchr14:80952224..80955578hg19UCSC Ensembl
Outerchr14:80021977..80025331hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383053
hg193053
hg183053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565489
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000822
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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