A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690489



Internal ID14711759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89137143..89137841hg38UCSC Ensembl
Innerchr16:89137142..89137842hg38UCSC Ensembl
Outerchr16:89136143..89138841hg38UCSC Ensembl
chr16:89203551..89204249hg19UCSC Ensembl
Innerchr16:89203550..89204250hg19UCSC Ensembl
Outerchr16:89202551..89205249hg19UCSC Ensembl
chr16:87731052..87731750hg18UCSC Ensembl
Innerchr16:87731751..87731051hg18UCSC Ensembl
Outerchr16:87730052..87732750hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419079
Supporting Variants
SamplesNA19239
Known GenesACSF3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690489
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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