A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998272



Internal ID6734212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66741329..66742958hg38UCSC Ensembl
Outerchr14:67208047..67209676hg19UCSC Ensembl
Outerchr14:66277800..66279429hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382534
hg192534
hg182534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565598
SamplesHuRef
Known GenesGPHN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998272
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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