A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690495



Internal ID14753473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90008143..90008741hg38UCSC Ensembl
Innerchr16:90008142..90008742hg38UCSC Ensembl
Outerchr16:90007143..90009741hg38UCSC Ensembl
chr16:90074551..90075149hg19UCSC Ensembl
Innerchr16:90074550..90075150hg19UCSC Ensembl
Outerchr16:90073551..90076149hg19UCSC Ensembl
chr16:88602052..88602650hg18UCSC Ensembl
Innerchr16:88602651..88602051hg18UCSC Ensembl
Outerchr16:88601052..88603650hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332179
Supporting Variants
SamplesNA19240
Known GenesDBNDD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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