A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377500



Internal ID5379316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12696564..12698421hg38UCSC Ensembl
Innerchr16:12696606..12698379hg38UCSC Ensembl
Outerchr16:12696522..12698463hg38UCSC Ensembl
chr16:12790421..12792278hg19UCSC Ensembl
Innerchr16:12790463..12792236hg19UCSC Ensembl
Outerchr16:12790379..12792320hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381858
hg191858
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637968
Supporting Variants
SamplesNA20908
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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