A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377508



Internal ID5379324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12698561..12715533hg38UCSC Ensembl
Innerchr16:12698561..12715533hg38UCSC Ensembl
Outerchr16:12698061..12716033hg38UCSC Ensembl
chr16:12792418..12809390hg19UCSC Ensembl
Innerchr16:12792418..12809390hg19UCSC Ensembl
Outerchr16:12791918..12809890hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3816973
hg1916973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637970
Supporting Variants
SamplesHG01976
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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