A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970573



Internal ID14107523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71880083..71880113hg38UCSC Ensembl
Innerchr16:71880097..71880097hg38UCSC Ensembl
Outerchr16:71880067..71880129hg38UCSC Ensembl
chr16:71913986..71914016hg19UCSC Ensembl
Innerchr16:71914000..71914000hg19UCSC Ensembl
Outerchr16:71913970..71914032hg19UCSC Ensembl
chr16:70471487..70471517hg18UCSC Ensembl
Innerchr16:70471501..70471501hg18UCSC Ensembl
Outerchr16:70471471..70471533hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431278
Supporting Variants
SamplesNA18563
Known GenesZNF821
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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