A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565764



Internal ID6690460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31080660..31090244hg38UCSC Ensembl
Outerchr16:31091981..31101565hg19UCSC Ensembl
Outerchr16:30999482..31009066hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg389585
hg199585
hg189585
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993244
Supporting Variants
SamplesHuRef
Known GenesPRSS53, ZNF646
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565764
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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