A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689946



Internal ID14675703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29526030..29533428hg38UCSC Ensembl
Innerchr16:29527030..29532428hg38UCSC Ensembl
Outerchr16:29525030..29534428hg38UCSC Ensembl
chr16:29537351..29544749hg19UCSC Ensembl
Innerchr16:29538351..29543749hg19UCSC Ensembl
Outerchr16:29536351..29545749hg19UCSC Ensembl
chr16:29444852..29452250hg18UCSC Ensembl
Innerchr16:29445852..29451250hg18UCSC Ensembl
Outerchr16:29443852..29453250hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387399
hg197399
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3409521
Supporting Variants
SamplesNA19238
Known GenesLOC440354
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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