A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003307



Internal ID7068413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91634382..91634748hg38UCSC Ensembl
Outerchr14:92100726..92101092hg19UCSC Ensembl
Outerchr14:91170479..91170845hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383544
hg193544
hg183544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564779
SamplesHuRef
Known GenesCATSPERB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003307
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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