A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564494



Internal ID7035594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48440675..48448412hg38UCSC Ensembl
Outerchr16:48474586..48482323hg19UCSC Ensembl
Outerchr16:47032087..47039824hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg387738
hg197738
hg187738
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008270
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564494
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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