A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970210



Internal ID13783718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49379434..49379454hg38UCSC Ensembl
Innerchr16:49379431..49379455hg38UCSC Ensembl
Outerchr16:49379411..49379477hg38UCSC Ensembl
chr16:49413345..49413365hg19UCSC Ensembl
Innerchr16:49413342..49413366hg19UCSC Ensembl
Outerchr16:49413322..49413388hg19UCSC Ensembl
chr16:47970846..47970866hg18UCSC Ensembl
Innerchr16:47970867..47970843hg18UCSC Ensembl
Outerchr16:47970823..47970889hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3357346
Supporting Variants
SamplesNA18501
Known GenesC16orf78
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970210
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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