A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690472



Internal ID14711671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88052445..88054343hg38UCSC Ensembl
Innerchr16:88053343..88053445hg38UCSC Ensembl
Outerchr16:88051445..88055343hg38UCSC Ensembl
chr16:88086051..88087949hg19UCSC Ensembl
Innerchr16:88086949..88087051hg19UCSC Ensembl
Outerchr16:88085051..88088949hg19UCSC Ensembl
chr16:86643552..86645450hg18UCSC Ensembl
Innerchr16:86644552..86644450hg18UCSC Ensembl
Outerchr16:86642552..86646450hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364175
Supporting Variants
SamplesNA19239
Known GenesBANP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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