A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005255



Internal ID6717376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89829649..89831981hg38UCSC Ensembl
chr16:89896057..89898389hg19UCSC Ensembl
chr16:88423558..88425890hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382333
hg192333
hg182333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571605
SamplesHuRef
Known GenesSPIRE2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005255
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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