A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787778



Internal ID19169502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:77357375..77651793hg38UCSC Ensembl
Innerchr16:77391272..77685690hg19UCSC Ensembl
Innerchr16:75948773..76243191hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38294419
hg19294419
hg18294419
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892897
Supporting Variants
Samples
Known GenesADAMTS18
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=115
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787778
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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