A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690407



Internal ID14711313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66379948..66381646hg38UCSC Ensembl
Innerchr16:66380646..66380948hg38UCSC Ensembl
Outerchr16:66378948..66382646hg38UCSC Ensembl
chr16:66413851..66415549hg19UCSC Ensembl
Innerchr16:66414549..66414851hg19UCSC Ensembl
Outerchr16:66412851..66416549hg19UCSC Ensembl
chr16:64971352..64973050hg18UCSC Ensembl
Innerchr16:64972352..64972050hg18UCSC Ensembl
Outerchr16:64970352..64974050hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448646
Supporting Variants
SamplesNA19239
Known GenesCDH5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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