A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000930



Internal ID7066059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96745707..96745780hg38UCSC Ensembl
chr14:97212044..97212117hg19UCSC Ensembl
chr14:96281797..96281870hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571212
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000930
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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