A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992091



Internal ID6728053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89649137..89649201hg38UCSC Ensembl
chr16:89715545..89715609hg19UCSC Ensembl
chr16:88243046..88243110hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581201
SamplesHuRef
Known GenesCHMP1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992091
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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