A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377512



Internal ID5379328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12756423..12762798hg38UCSC Ensembl
Innerchr16:12756461..12762761hg38UCSC Ensembl
Outerchr16:12756386..12762836hg38UCSC Ensembl
chr16:12850280..12856655hg19UCSC Ensembl
Innerchr16:12850318..12856618hg19UCSC Ensembl
Outerchr16:12850243..12856693hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg386376
hg196376
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637972
Supporting Variants
SamplesHG02787
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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