A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1246626



Internal ID12063063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89541181..89541230hg38UCSC Ensembl
chr16:89607589..89607638hg19UCSC Ensembl
chr16:88135090..88135139hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3748455
SamplesHuRef
Known GenesSPG7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1246626
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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