A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653154



Internal ID14717338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2737947..2737947hg38UCSC Ensembl
Innerchr16:2737946..2737948hg38UCSC Ensembl
Outerchr16:2737897..2737997hg38UCSC Ensembl
chr16:2787948..2787948hg19UCSC Ensembl
Innerchr16:2787947..2787949hg19UCSC Ensembl
Outerchr16:2787898..2787998hg19UCSC Ensembl
chr16:2727949..2727949hg18UCSC Ensembl
Innerchr16:2727950..2727948hg18UCSC Ensembl
Outerchr16:2727899..2727999hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38541
hg19541
hg18541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3348944
Supporting Variants
SamplesNA19239
Known GenesSRRM2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653154
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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