A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501630



Internal ID6175022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68650399..68653321hg38UCSC Ensembl
Innerchr16:68650399..68653321hg38UCSC Ensembl
Outerchr16:68650106..68653621hg38UCSC Ensembl
chr16:68684302..68687224hg19UCSC Ensembl
Innerchr16:68684302..68687224hg19UCSC Ensembl
Outerchr16:68684009..68687524hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382923
hg192923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638908
Supporting Variants
SamplesNA19713
Known GenesCDH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501630
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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