A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377493



Internal ID5379309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12666471..12685176hg38UCSC Ensembl
Innerchr16:12666471..12685176hg38UCSC Ensembl
Outerchr16:12665971..12685676hg38UCSC Ensembl
chr16:12760328..12779033hg19UCSC Ensembl
Innerchr16:12760328..12779033hg19UCSC Ensembl
Outerchr16:12759828..12779533hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3818706
hg1918706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637967
Supporting Variants
SamplesHG03756
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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